Gene Symbol | HCCS |
Entrez Gene ID | 3052 |
Full Name | holocytochrome c synthase |
Synonyms | CCHL,LSDMCA1,MCOPS7,MLS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jan 2010]. |
Disorder MIM: | |
Disorder Html: | Linear skin defects with multiple congenital anomalies 1, 309801 (3) |