Table 1 Protein encoding genes with a known function included in the Xq21.1 deletion
Gene | Protein | Protein function | Disease |
|---|---|---|---|
CYSLTR1 | Cysteinyl leukotriene receptor 1 | Mediation of bronchoconstriction via activation of a phosphatidylinositol-calcium second messenger system | None |
ZCCHC5 | Zinc finger, CCHC domain containing 5 | Member of a family of gag-related retrotransposon genes | None |
LPAR4 | Lysophosphatidic acid receptor 4 | Monocytic differentiation | None |
P2RY10 | Purinergic receptor P2Y, G-protein coupled, 10 | Stimulation of diacylglyceride-dependent protein kinases | None |
GPR174 | G protein-coupled receptor 174 | Lysophosphatidylserine receptor involved in intracellular cAMP increase | None |
ITM2A | Integral membrane protein 2A | Chondrogenesis | None |
TBX22 | T-box 22 | Palatogenesis | Cleft palate with ankyloglossia |
BRWD3 | Bromodomain and WD repeat domain containing 3 | Chromatin-modification | Intellectual disability X-linked with macrocephaly |
HMGN5 | High mobility group nucleosome binding domain 5 | Nucleosomal binding and transcriptional activation | None |
SH3BGRL | SH3 domain binding glutamate-rich protein like | Signal transduction | None |
POU3F4 | POU class 3 homeobox 4 | Inner ear development | Non-syndromic hearing loss |
CYLC1 | Cylicin, basic protein of sperm head cytoskeleton 1 | Spermatid differentiation | None |