The 22q11.2 deletion syndrome can result in the loss of up to 46 protein-coding genes, which have wide-spread effects on human development. The loss of TBX1 is thought to be responsible for a large proportion of the 22q11.2DS phenotype, due its role in the development of the heart, thymus, thyroid, parathyroids and more.The 22q11.2 deletion syndrome can affect over 46 protein-coding genes on chromosome 22. The loss of TBX1 is thought to be responsible for a large part of the 22q11.2DS phenotype, as it is involved in the development of the heart, thymus, thyroid and parathyroid glands, and some craniofacial features.22q11.2 deletion syndrome22q11 deletion syndromep75KIAA0202NEEDS VERIFICATION! assumption based on study finding dgcr8 deletion increases drd2 expression which is only a target to hsa-miR-9 according to mirtarbasemitochondrial matrix citratealso known as Nogo-66 Receptor (NgR) or Nogo receptor 1CDCrel-1DNA sequence-specific recognition of sites bound by the Drosophila anterior morphogen, Bicoidb81BH3-only, BopDGCR14c36Altered mitochondrial metabolismCausative gene for Combined D-2- and L-2-hydroxyglutaric aciduriadafIn epistasis with TBX1ONLY isoform 2, which is brain-specific; CDC42PALMInvolved in Macrothrombocytopenia developmentResponsible for Bernard-Soulier syndromedb1Cytplasm citrateCDCrel-1CDCrel-1e18b0bab5e8abdbb9ffe1cb0ad4f14a62ea5e61abed4eedcb20be5c73cfcd7dabcfe1ecbd2df88edebc5d2dc11eded88af1c85cc6ececfaadfbe5e18f04e96cc3ac2d86bedcb8d4binteraction between HIRA and ASF1A is rate limiting for the formation of SAHFbcbSRF1 mRNA is not affectedaedcb8The 2 proteins appeared to interact within a pathway involving the flux of heterochromatic proteins through PML nuclear bodiesbcbac3TSSK 2 expressed in yeast and bacteria was able to autophosphorylate and also phosphorylated recombinant TSKS in vitrofcecc9ActivationFGF8 expression is reduced in TBX1 null embryosUnclear whether direct or direct interactionMouse model tbx1 null --> significant upregulationa1bafffcftyrosine phosphorylation and subsequent binding of fgfr1b00e57fdfMouse model TBX1+/- --> significant downregulationa1bTBX1 and FGF8 found to be in epistasisd2eCo-expression of TBX1 and PITX2TBX1 and NKX2-5 co-regulate PITX2 expressione57b94dc5ad1dc5Co-expressed in 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