Entrez gene ID | | 3052 |
Official gene symbol | | HCCS |
Full name | | holocytochrome c synthase |
Aliases | | ,CCHL,DKFZp779I1858,MCOPS7, |
Gene summary | | The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xp22.3 |
Gene position | | 11129406 - 11141206 Map Viewer |
Gene orientation | | plus |
Gene size | | 11801 bp |
Gene sequence |
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OMIM ID | | 300056 |