Skip to main content

Table 1 Protein encoding genes with a known function included in the Xq21.1 deletion

From: A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency

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