Aliases for HCCS Gene
External Ids for HCCS Gene
Previous HGNC Symbols for HCCS Gene
Previous GeneCards Identifiers for HCCS Gene
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]
GeneCards Summary for HCCS Gene
HCCS (Holocytochrome C Synthase) is a Protein Coding gene. Diseases associated with HCCS include Linear Skin Defects With Multiple Congenital Anomalies 1 and Sclerocornea. Among its related pathways are Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include holocytochrome-c synthase activity.
UniProtKB/Swiss-Prot Summary for HCCS Gene
Lyase that catalyzes the covalent linking of the heme group to the cytochrome C apoprotein to produce the mature functional cytochrome.