Label Type Identifier Comment Ensembl NCBI gene HGNC UniProt Wikidata ChEBI InChI C Metabolite chebi:17376 "" wikidata:Q27102343 chebi:17376;chebi:17376 inchikey:LEVWYRKDKASIDU-UHFFFAOYSA-N C Metabolite chebi:17376 "" wikidata:Q27102343 chebi:17376;chebi:17376 inchikey:LEVWYRKDKASIDU-UHFFFAOYSA-N C Metabolite chebi:17376 "" wikidata:Q27102343 chebi:17376;chebi:17376 inchikey:LEVWYRKDKASIDU-UHFFFAOYSA-N SLC2A4 GeneProduct ncbigene:6517 "GLUT4- associated with noninsulin diabetes mellitus " ensembl:ENSG00000181856 ncbigene:6517 hgnc.symbol:SLC2A4 uniprot:I3L2R4;uniprot:I3L1S2;uniprot:P14672;uniprot:F5H081 MIRLET7B GeneProduct ncbigene:406884 "targets HMGA2, decreasing it --> high amounts in mature adipocytes " ensembl:ENSG00000284520 ncbigene:406884 hgnc.symbol:MIRLET7B CCND1 GeneProduct ncbigene:595 "" ensembl:ENSG00000110092 ncbigene:595 hgnc.symbol:CCND1 uniprot:P24385;uniprot:Q6FI00;uniprot:F5H437 PPARG GeneProduct ncbigene:5468 "is down regulated following overexpression of miR33B" ensembl:ENSG00000132170 ncbigene:5468 hgnc.symbol:PPARG uniprot:E7EU07;uniprot:A0A804HL89;uniprot:Q6L9M1;uniprot:A0A804HJN2;uniprot:A0A494C0T3;uniprot:A0A494C012;uniprot:E7EUD1;uniprot:A0A804HIG1;uniprot:A0A804HLH1;uniprot:A0A494C0D9;uniprot:P37231;uniprot:A0A3P3ZKM0;uniprot:A0A499FIV4;uniprot:E9PFV3;uniprot:E9PFX5;uniprot:E9PFV2 CEBPD GeneProduct ncbigene:1052 "" ensembl:ENSG00000221869 ncbigene:1052 hgnc.symbol:CEBPD uniprot:P49716 CEBPB GeneProduct ncbigene:1051 "activated in early stages of adipogenesis --> activates transcription of PPARG and CEBPA by binding to promoter region in later stages of adipogenesis as are anti mitotic- promote terminal differentiation" ensembl:ENSG00000172216 ncbigene:1051 hgnc.symbol:CEBPB uniprot:P17676 CEBPA GeneProduct ncbigene:1050 "is down regulated following overexpression of miR33B" ensembl:ENSG00000245848 ncbigene:1050 hgnc.symbol:CEBPA uniprot:P49715 WNT10B GeneProduct ncbigene:7480 "upregulation will stimulate wnt signaling to down regulate adipogenesis" ensembl:ENSG00000169884 ncbigene:7480 hgnc.symbol:WNT10B uniprot:C9J3H3;uniprot:C9JCI2;uniprot:O00744;uniprot:B5MCC8 GSK3B GeneProduct ncbigene:2932 "" ensembl:ENSG00000082701 ncbigene:2932 hgnc.symbol:GSK3B uniprot:A0A3B3ITW1;uniprot:A0A7I2V4F3;uniprot:A0A7I2YQ81;uniprot:A0A7I2V5B5;uniprot:A0A7I2V3D8;uniprot:A0A7I2V2Y0;uniprot:A0A7I2YQU1;uniprot:A0A7I2YQK0;uniprot:A0A7I2V2U4;uniprot:A0A7I2V441;uniprot:A0A7I2V4W7;uniprot:A0A7I2V589;uniprot:A0A7I2V3S5;uniprot:A0A7I2YQK2;uniprot:A0A7I2V5M2;uniprot:A0A7I2V626;uniprot:A0A7I2V606;uniprot:A0A7I2V2I5;uniprot:A0A7I2V2K7;uniprot:A0A7I2V3K8;uniprot:A0A7I2YQG6;uniprot:A0A7I2V4G2;uniprot:P49841;uniprot:A0A7I2V5G5;uniprot:A0A7I2V5K9;uniprot:A0A7I2V3A4;uniprot:A0A7I2V3G9;uniprot:Q6FI27;uniprot:A0A7I2V3Z5;uniprot:A0A7I2V4X2;uniprot:A0A7I2V2T2;uniprot:A0A7I2V2V4;uniprot:A0A7I2V4X3;uniprot:A0A7I2V3T3;uniprot:A0A7I2V675;uniprot:A0A7I2V432;uniprot:A0A7I2V2N4;uniprot:A0A7I2V5P4;uniprot:A0A7I2YQB0;uniprot:A0A7I2V3N7;uniprot:A0A7I2V3J4 CSNK1A1 GeneProduct ncbigene:1452 "" ensembl:ENSG00000113712 ncbigene:1452 hgnc.symbol:CSNK1A1 uniprot:D6REM4;uniprot:E5RG27;uniprot:A0A5F9W493;uniprot:D6RGE5;uniprot:U3KPX3;uniprot:U3KQ83;uniprot:P48729;uniprot:A0A590UJQ7;uniprot:A0A590UK94;uniprot:E7ETM0;uniprot:H0Y9X2;uniprot:A0A590UJ43;uniprot:U3KQK7 CTNNB1 GeneProduct ncbigene:1499 "" ensembl:ENSG00000168036 ncbigene:1499 hgnc.symbol:CTNNB1 uniprot:A0A2R8Y6G0;uniprot:A0A2R8Y804;uniprot:A0A2R8Y815;uniprot:A0A2R8Y5A3;uniprot:C9IZ65;uniprot:A0A2R8Y5C3;uniprot:P35222;uniprot:A0A2R8Y7Z0;uniprot:A0A2R8YG06;uniprot:A0A2R8Y5Z1;uniprot:A0A2R8Y750;uniprot:A0A2R8YCH5;uniprot:A0A024R2Q3;uniprot:A0A2R8Y543;uniprot:B4DGU4 CSNK1A1L GeneProduct ncbigene:122011 "" ensembl:ENSG00000180138 ncbigene:122011 hgnc.symbol:CSNK1A1L uniprot:Q8N752 APC GeneProduct ncbigene:324 "" ensembl:ENSG00000134982 ncbigene:324 hgnc.symbol:APC uniprot:A0A087X2F3;uniprot:E7EMH9;uniprot:D6RFL6;uniprot:E9PFT7;uniprot:R4GMU6;uniprot:A0A087WYF3;uniprot:A0A2Q2SV78;uniprot:P25054 AXIN1 GeneProduct ncbigene:8312 "" ensembl:ENSG00000103126 ncbigene:8312 hgnc.symbol:AXIN1 uniprot:A0A0S2Z4S3;uniprot:A0A0S2Z4R0;uniprot:O15169;uniprot:H0Y830 CTNNB1 GeneProduct ncbigene:1499 "" ensembl:ENSG00000168036 ncbigene:1499 hgnc.symbol:CTNNB1 uniprot:A0A2R8Y6G0;uniprot:A0A2R8Y804;uniprot:A0A2R8Y815;uniprot:A0A2R8Y5A3;uniprot:C9IZ65;uniprot:A0A2R8Y5C3;uniprot:P35222;uniprot:A0A2R8Y7Z0;uniprot:A0A2R8YG06;uniprot:A0A2R8Y5Z1;uniprot:A0A2R8Y750;uniprot:A0A2R8YCH5;uniprot:A0A024R2Q3;uniprot:A0A2R8Y543;uniprot:B4DGU4 CTNNB1 GeneProduct ncbigene:1499 "" ensembl:ENSG00000168036 ncbigene:1499 hgnc.symbol:CTNNB1 uniprot:A0A2R8Y6G0;uniprot:A0A2R8Y804;uniprot:A0A2R8Y815;uniprot:A0A2R8Y5A3;uniprot:C9IZ65;uniprot:A0A2R8Y5C3;uniprot:P35222;uniprot:A0A2R8Y7Z0;uniprot:A0A2R8YG06;uniprot:A0A2R8Y5Z1;uniprot:A0A2R8Y750;uniprot:A0A2R8YCH5;uniprot:A0A024R2Q3;uniprot:A0A2R8Y543;uniprot:B4DGU4 LEF1 GeneProduct ncbigene:51176 "" ensembl:ENSG00000138795 ncbigene:51176 hgnc.symbol:LEF1 uniprot:D6RID7;uniprot:D6RAB1;uniprot:D6RIV1;uniprot:Q9UJU2 TCF7 GeneProduct ncbigene:6932 "" ensembl:ENSG00000081059 ncbigene:6932 hgnc.symbol:TCF7 uniprot:E5RG75;uniprot:E5RJ51;uniprot:E5RGQ1;uniprot:E5RG34;uniprot:E5RHL1;uniprot:H0YAR8;uniprot:H0YBC8;uniprot:H0YBM1;uniprot:P36402;uniprot:E5RGJ5;uniprot:B7WNT5;uniprot:H0YBP2 TCF7L2 GeneProduct ncbigene:6934 "" ensembl:ENSG00000148737 ncbigene:6934 hgnc.symbol:TCF7L2 uniprot:Q5VVR7;uniprot:Q5VVR8;uniprot:A0A0A0MTL7;uniprot:A0A1B0GVE1;uniprot:Q9NQB0;uniprot:B7Z9Z6;uniprot:A0A0D9SGH8;uniprot:Q6FHW4;uniprot:Q5VVR5;uniprot:A0A1B0GU84;uniprot:Q5JRY3;uniprot:C6ZRJ7;uniprot:C6ZRK5;uniprot:H0YEE5;uniprot:Q5JRY5;uniprot:Q5JRY4 TCF7L1 GeneProduct ncbigene:83439 "" ensembl:ENSG00000152284 ncbigene:83439 hgnc.symbol:TCF7L1 uniprot:Q9HCS4;uniprot:C9JPE3 CTNNB1 GeneProduct ncbigene:1499 "" ensembl:ENSG00000168036 ncbigene:1499 hgnc.symbol:CTNNB1 uniprot:A0A2R8Y6G0;uniprot:A0A2R8Y804;uniprot:A0A2R8Y815;uniprot:A0A2R8Y5A3;uniprot:C9IZ65;uniprot:A0A2R8Y5C3;uniprot:P35222;uniprot:A0A2R8Y7Z0;uniprot:A0A2R8YG06;uniprot:A0A2R8Y5Z1;uniprot:A0A2R8Y750;uniprot:A0A2R8YCH5;uniprot:A0A024R2Q3;uniprot:A0A2R8Y543;uniprot:B4DGU4 ZMPSTE24 GeneProduct ncbigene:10269 "" ensembl:ENSG00000084073 ncbigene:10269 hgnc.symbol:ZMPSTE24 uniprot:A0A6Q8PH40;uniprot:A0A6Q8PF67;uniprot:O75844;uniprot:A0A6Q8PHG9 LMNA GeneProduct ncbigene:4000 "Single point mutations = AD-EMD" ensembl:ENSG00000160789 ncbigene:4000 hgnc.symbol:LMNA uniprot:A0A6Q8PHQ9;uniprot:P02545;uniprot:A0A6Q8PGH0;uniprot:A0A804HL68;uniprot:A0A6Q8PFF5;uniprot:H0YAB0;uniprot:A0A6Q8PF80;uniprot:D6RB20;uniprot:Q3BDU5;uniprot:Q5TCI8;uniprot:A0A6Q8PFJ0;uniprot:A0A384MQX1;uniprot:A0A6Q8PF59;uniprot:A0A6Q8PFM1 Isoprenylcysteine carboxyl methyltransferase GeneProduct ncbigene:23463 "" ensembl:ENSG00000116237 ncbigene:23463 hgnc.symbol:ICMT uniprot:O60725;uniprot:Q7Z750;uniprot:K7EQW0;uniprot:A0A024R4F6 Farnesyltransferase GeneProduct ncbigene:2339 "" ensembl:ENSG00000168522 ncbigene:2339 hgnc.symbol:FNTA uniprot:E9PK84;uniprot:E9PQP6;uniprot:P49354;uniprot:E9PN85;uniprot:E9PPM9;uniprot:H0YCW1;uniprot:B3KVN2 ZMPSTE24 GeneProduct ncbigene:10269 "" ensembl:ENSG00000084073 ncbigene:10269 hgnc.symbol:ZMPSTE24 uniprot:A0A6Q8PH40;uniprot:A0A6Q8PF67;uniprot:O75844;uniprot:A0A6Q8PHG9 Mature lamin A GeneProduct ncbigene:4000 "" ensembl:ENSG00000160789 ncbigene:4000 hgnc.symbol:LMNA uniprot:A0A6Q8PHQ9;uniprot:P02545;uniprot:A0A6Q8PGH0;uniprot:A0A804HL68;uniprot:A0A6Q8PFF5;uniprot:H0YAB0;uniprot:A0A6Q8PF80;uniprot:D6RB20;uniprot:Q3BDU5;uniprot:Q5TCI8;uniprot:A0A6Q8PFJ0;uniprot:A0A384MQX1;uniprot:A0A6Q8PF59;uniprot:A0A6Q8PFM1 SREBP1c GeneProduct ncbigene:6720 "" ensembl:ENSG00000072310 ncbigene:6720 hgnc.symbol:SREBF1 uniprot:K7EMT8;uniprot:K7EKR7;uniprot:K7EIW8;uniprot:K7EMD1;uniprot:P36956;uniprot:J3QLB6;uniprot:S4R3B4;uniprot:F6V242 MIR33B GeneProduct ncbigene:693120 "intronic microRNA located within the genes encoding SREBP are transcribed in concert with their host genes and function alongside them to regulate cholesterol/FA and glucose metabolism
MIR33b is highly induced upon differentiation of human preadipocytes + SREBP1
inhibition of MiR-33b enhances lipid droplet accumilation + its overexpression impaired preadipocyte proliferation + PPARG activation --> may be mediated by targeting HMGA2/CDK6+ others
overexpression of miR-33b causes reduced preadipocyte proliferation and impaired differentiation e inhibition of miR-33b enhanced lipid accumulation in differentiating adipocytes
negative regulator of adipogenesis, despite being highly upregulated during the later stages of adipocyte differentiation." ensembl:ENSG00000207839 ncbigene:693120 hgnc.symbol:MIR33B SREBP1c GeneProduct ncbigene:6720 "" ensembl:ENSG00000072310 ncbigene:6720 hgnc.symbol:SREBF1 uniprot:K7EMT8;uniprot:K7EKR7;uniprot:K7EIW8;uniprot:K7EMD1;uniprot:P36956;uniprot:J3QLB6;uniprot:S4R3B4;uniprot:F6V242 PPARG GeneProduct ncbigene:5468 "Novel F388L mutation is associated with a form of partial lipodystrophy" ensembl:ENSG00000132170 ncbigene:5468 hgnc.symbol:PPARG uniprot:E7EU07;uniprot:A0A804HL89;uniprot:Q6L9M1;uniprot:A0A804HJN2;uniprot:A0A494C0T3;uniprot:A0A494C012;uniprot:E7EUD1;uniprot:A0A804HIG1;uniprot:A0A804HLH1;uniprot:A0A494C0D9;uniprot:P37231;uniprot:A0A3P3ZKM0;uniprot:A0A499FIV4;uniprot:E9PFV3;uniprot:E9PFX5;uniprot:E9PFV2 CDK6 GeneProduct ncbigene:1021 "" ensembl:ENSG00000105810 ncbigene:1021 hgnc.symbol:CDK6 uniprot:Q00534 AGO2 GeneProduct ncbigene:27161 "" ensembl:ENSG00000123908 ncbigene:27161 hgnc.symbol:AGO2 uniprot:E5RJY2;uniprot:E5RGG9;uniprot:Q9UKV8 TARBP2 GeneProduct ncbigene:6895 "" ensembl:ENSG00000139546 ncbigene:6895 hgnc.symbol:TARBP2 uniprot:H3BV98;uniprot:F8VTT7;uniprot:F8VZZ7;uniprot:F8VW32;uniprot:F8VZ57;uniprot:F8VP94;uniprot:Q15633;uniprot:F8VYK6;uniprot:F8VSA1;uniprot:F8VYK3 HMGA2 GeneProduct ncbigene:8091 "chromatin remodeling factor--> important role in the clonal-expansion phase of adipogenesis - may be able to control critical genes involved in cellular proliferation--> loss of HMGA2 impairs adipocyte differentiation
overexpression of miR33B caused a significant reduction in HMGA2
HMGA2 is induced during the clonal-expansion phase of adipogenesis but reduced following terminal differentiation
Type your comment here" ensembl:ENSG00000149948 ncbigene:8091 hgnc.symbol:HMGA2 uniprot:H0YFY4;uniprot:F5H6H0;uniprot:P52926;uniprot:F5H2A4;uniprot:F5H2U8 DICER1 GeneProduct ncbigene:23405 "" ensembl:ENSG00000100697 ncbigene:23405 hgnc.symbol:DICER1 uniprot:A0A7I2YBM0;uniprot:A0A6Q8PFV4;uniprot:A0A6Q8PH99;uniprot:F6SZ09;uniprot:H0YJZ6;uniprot:A0A6Q8PHG6;uniprot:Q9UPY3;uniprot:Q5D0K5 MIR33B GeneProduct ncbigene:693120 "" ensembl:ENSG00000207839 ncbigene:693120 hgnc.symbol:MIR33B SPP1 GeneProduct ncbigene:6696 "" ensembl:ENSG00000118785 ncbigene:6696 hgnc.symbol:SPP1 uniprot:A0A804HLB3;uniprot:A0A024RDE2;uniprot:Q3LGB0;uniprot:A0A024RDE6;uniprot:A0A024RDJ0;uniprot:P10451 RUNX2 GeneProduct ncbigene:860 "" ensembl:ENSG00000124813 ncbigene:860 hgnc.symbol:RUNX2 uniprot:Q13950;uniprot:A0A2R8Y7Z3;uniprot:I3L0L0;uniprot:I3L4L9;uniprot:I3L354;uniprot:A0A0D9SEN7 TLE1 GeneProduct ncbigene:7088 "" ensembl:ENSG00000196781 ncbigene:7088 hgnc.symbol:TLE1 uniprot:Q5T3G2;uniprot:Q5T3G3;uniprot:F6T2C8;uniprot:A0A669KAE5;uniprot:A0A669KBB1;uniprot:Q04724;uniprot:A0A669KBK8 HES1 GeneProduct ncbigene:3280 "" ensembl:ENSG00000114315 ncbigene:3280 hgnc.symbol:HES1 uniprot:Q14469 HES5 GeneProduct ncbigene:388585 "" ensembl:ENSG00000197921 ncbigene:388585 hgnc.symbol:HES5 uniprot:Q5TA89 Progerin GeneProduct ncbigene:4000 "" ensembl:ENSG00000160789 ncbigene:4000 hgnc.symbol:LMNA uniprot:A0A6Q8PHQ9;uniprot:P02545;uniprot:A0A6Q8PGH0;uniprot:A0A804HL68;uniprot:A0A6Q8PFF5;uniprot:H0YAB0;uniprot:A0A6Q8PF80;uniprot:D6RB20;uniprot:Q3BDU5;uniprot:Q5TCI8;uniprot:A0A6Q8PFJ0;uniprot:A0A384MQX1;uniprot:A0A6Q8PF59;uniprot:A0A6Q8PFM1 EMD GeneProduct ncbigene:2010 "Mutations are linked to X-EMD" ensembl:ENSG00000102119 ncbigene:2010 hgnc.symbol:EMD uniprot:A0A804HLA2;uniprot:P50402;uniprot:A0A804HIG7;uniprot:A0A804HIV7;uniprot:F8WEQ1;uniprot:Q5HY57 CTNNB1 GeneProduct ncbigene:1499 "" ensembl:ENSG00000168036 ncbigene:1499 hgnc.symbol:CTNNB1 uniprot:A0A2R8Y6G0;uniprot:A0A2R8Y804;uniprot:A0A2R8Y815;uniprot:A0A2R8Y5A3;uniprot:C9IZ65;uniprot:A0A2R8Y5C3;uniprot:P35222;uniprot:A0A2R8Y7Z0;uniprot:A0A2R8YG06;uniprot:A0A2R8Y5Z1;uniprot:A0A2R8Y750;uniprot:A0A2R8YCH5;uniprot:A0A024R2Q3;uniprot:A0A2R8Y543;uniprot:B4DGU4 TOR1AIP1 GeneProduct ncbigene:26092 "" ensembl:ENSG00000143337 ncbigene:26092 hgnc.symbol:TOR1AIP1 uniprot:J3KN66;uniprot:Q5JTV8;uniprot:H0Y4R4;uniprot:A0A0A0MSK5;uniprot:H0YD16;uniprot:H0YDJ8;uniprot:H0YDU3 Mature lamin A GeneProduct ncbigene:4000 "" ensembl:ENSG00000160789 ncbigene:4000 hgnc.symbol:LMNA uniprot:A0A6Q8PHQ9;uniprot:P02545;uniprot:A0A6Q8PGH0;uniprot:A0A804HL68;uniprot:A0A6Q8PFF5;uniprot:H0YAB0;uniprot:A0A6Q8PF80;uniprot:D6RB20;uniprot:Q3BDU5;uniprot:Q5TCI8;uniprot:A0A6Q8PFJ0;uniprot:A0A384MQX1;uniprot:A0A6Q8PF59;uniprot:A0A6Q8PFM1 Adiponectin Protein uniprot:Q15848 "glucose regulation and fatty acid oxidation metabolism --> is secreated from adipose tissue " ensembl:ENSG00000181092 ncbigene:9370 hgnc.symbol:ADIPOQ uniprot:Q15848;uniprot:A8K660 Prelamin-A Protein uniprot:D6RB20 "" ensembl:ENSG00000160789 ncbigene:4000 hgnc.symbol:LMNA uniprot:A0A6Q8PHQ9;uniprot:P02545;uniprot:A0A6Q8PGH0;uniprot:A0A804HL68;uniprot:A0A6Q8PFF5;uniprot:H0YAB0;uniprot:A0A6Q8PF80;uniprot:D6RB20;uniprot:Q3BDU5;uniprot:Q5TCI8;uniprot:A0A6Q8PFJ0;uniprot:A0A384MQX1;uniprot:A0A6Q8PF59;uniprot:A0A6Q8PFM1 Prelamin-A Protein uniprot:D6RB20 "" ensembl:ENSG00000160789 ncbigene:4000 hgnc.symbol:LMNA uniprot:A0A6Q8PHQ9;uniprot:P02545;uniprot:A0A6Q8PGH0;uniprot:A0A804HL68;uniprot:A0A6Q8PFF5;uniprot:H0YAB0;uniprot:A0A6Q8PF80;uniprot:D6RB20;uniprot:Q3BDU5;uniprot:Q5TCI8;uniprot:A0A6Q8PFJ0;uniprot:A0A384MQX1;uniprot:A0A6Q8PF59;uniprot:A0A6Q8PFM1 Prelamin-A Protein uniprot:D6RB20 "" ensembl:ENSG00000160789 ncbigene:4000 hgnc.symbol:LMNA uniprot:A0A6Q8PHQ9;uniprot:P02545;uniprot:A0A6Q8PGH0;uniprot:A0A804HL68;uniprot:A0A6Q8PFF5;uniprot:H0YAB0;uniprot:A0A6Q8PF80;uniprot:D6RB20;uniprot:Q3BDU5;uniprot:Q5TCI8;uniprot:A0A6Q8PFJ0;uniprot:A0A384MQX1;uniprot:A0A6Q8PF59;uniprot:A0A6Q8PFM1 Prelamin-A Protein uniprot:D6RB20 "" ensembl:ENSG00000160789 ncbigene:4000 hgnc.symbol:LMNA uniprot:A0A6Q8PHQ9;uniprot:P02545;uniprot:A0A6Q8PGH0;uniprot:A0A804HL68;uniprot:A0A6Q8PFF5;uniprot:H0YAB0;uniprot:A0A6Q8PF80;uniprot:D6RB20;uniprot:Q3BDU5;uniprot:Q5TCI8;uniprot:A0A6Q8PFJ0;uniprot:A0A384MQX1;uniprot:A0A6Q8PF59;uniprot:A0A6Q8PFM1 Prelamin-A Protein uniprot:D6RB20 "" ensembl:ENSG00000160789 ncbigene:4000 hgnc.symbol:LMNA uniprot:A0A6Q8PHQ9;uniprot:P02545;uniprot:A0A6Q8PGH0;uniprot:A0A804HL68;uniprot:A0A6Q8PFF5;uniprot:H0YAB0;uniprot:A0A6Q8PF80;uniprot:D6RB20;uniprot:Q3BDU5;uniprot:Q5TCI8;uniprot:A0A6Q8PFJ0;uniprot:A0A384MQX1;uniprot:A0A6Q8PF59;uniprot:A0A6Q8PFM1 Prelamin-A Protein uniprot:D6RB20 "" ensembl:ENSG00000160789 ncbigene:4000 hgnc.symbol:LMNA uniprot:A0A6Q8PHQ9;uniprot:P02545;uniprot:A0A6Q8PGH0;uniprot:A0A804HL68;uniprot:A0A6Q8PFF5;uniprot:H0YAB0;uniprot:A0A6Q8PF80;uniprot:D6RB20;uniprot:Q3BDU5;uniprot:Q5TCI8;uniprot:A0A6Q8PFJ0;uniprot:A0A384MQX1;uniprot:A0A6Q8PF59;uniprot:A0A6Q8PFM1 Truncated prelamin-A Protein uniprot:D6RB20 "LMNA heterozygous splicing mutation --> loss of exon 11 results in a truncated pre lamin A - removal of Carboxyl terminal motif - interaction with other proteins - disrupted function
can also result from ZMPSTE24 mutations - premature stop codon - no propper processing of lamin A - can also result from null mutations" ensembl:ENSG00000160789 ncbigene:4000 hgnc.symbol:LMNA uniprot:A0A6Q8PHQ9;uniprot:P02545;uniprot:A0A6Q8PGH0;uniprot:A0A804HL68;uniprot:A0A6Q8PFF5;uniprot:H0YAB0;uniprot:A0A6Q8PF80;uniprot:D6RB20;uniprot:Q3BDU5;uniprot:Q5TCI8;uniprot:A0A6Q8PFJ0;uniprot:A0A384MQX1;uniprot:A0A6Q8PF59;uniprot:A0A6Q8PFM1 Emerin Protein uniprot:F8WEQ1 "" ensembl:ENSG00000102119 ncbigene:2010 hgnc.symbol:EMD uniprot:A0A804HLA2;uniprot:P50402;uniprot:A0A804HIG7;uniprot:A0A804HIV7;uniprot:F8WEQ1;uniprot:Q5HY57 Emerin Protein uniprot:F8WEQ1 "" ensembl:ENSG00000102119 ncbigene:2010 hgnc.symbol:EMD uniprot:A0A804HLA2;uniprot:P50402;uniprot:A0A804HIG7;uniprot:A0A804HIV7;uniprot:F8WEQ1;uniprot:Q5HY57 Emerin Protein uniprot:F8WEQ1 "" ensembl:ENSG00000102119 ncbigene:2010 hgnc.symbol:EMD uniprot:A0A804HLA2;uniprot:P50402;uniprot:A0A804HIG7;uniprot:A0A804HIV7;uniprot:F8WEQ1;uniprot:Q5HY57