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Table 1 OMIM genes included in the deletion, protein products and function and disease caused

From: A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient

Gene Protein Protein function Disease
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
RPS6KA6 Ribosomal protein S6 kinase A6 Activation of the mitogen-activated kinase cascade None
HDX Highly divergent homeobox Unknown None
APOOL Apolipoprotein O like Lipoprotein complexes circulation None
SATL1 Spermidine/spermine N1-acetyl transferase-like 1 Unknown None
ZNF711 Zinc finger protein 711 Similarity to protein that acts as a transcriptional activator Mental retardation, X-linked type 97
POF1B Premature ovarian failure, 1B Germ cell division Premature ovarian failure
CHM Rab escort protein 1 Regulation of vesicular traffic Choroideremia
DACH2 Dachshund family transcription factor 2 Regulation of organogenesis and myogenesis None
KLHL4 Kelch like family member 4 Banding domain of actin None
CPXCR1 CPX chromosome region, candidate 1 Contains a motif similar to motifs in zinc finger protein None