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