full name
holocytochrome c synthase

synonyms
CCHL, MCOPS7, HCCS, ENSG00000004961

HGNC
HGNC:4837

Entrez Gene
Gene:3052

ENSEMBL
ENSG00000004961

location
chr: X
start: 11129406
stop: 11141206
strand: +

OMIM
OMIM:300056: HCCS (X-linked dominant inheritance)
OMIM:309801: Linear skin defects with multiple congenital anomalies 1

transcripts
NM_005333.4
NM_001122608.2
NM_001171991.2

pathways
Porphyrin and chlorophyll metabolism [NCBI:83021] [KEGG:hsa00860] [PUBMED:12195810] [PUBMED:11283349] [PUBMED:10217486] [PUBMED:11007789] [PUBMED:10518530] [PUBMED:12055304] [PUBMED:12196148] [PUBMED:17506685] [PUBMED:16245042] [PUBMED:23922391] [PUBMED:23042036] [PUBMED:9461500]