Holocytochrome C Synthase (HCCS)

CCHL; MCOPS7; Cytochrome C Heme-Lyase

SPN	T471
HGNC	4837
MGI	106911
PubMed	17187432
RGD	1563855
UniProt	P53701
Wiki	HCCS_(gene

Based on its chromosomal location and its role in the mitochondrial respiratory chain, HCCS was considered a candidate gene for Rett syndrome (RTT). The genomic structure of the gene, which occupies an 11-kb region and consists of 7 exons, was determined. No mutational abnormality of the gene was found in 20 RTT patients (Van den Veyver et al., 1998).

The human gene, symbolized HCCS, and the corresponding murine gene characterized by Schaefer et al. (1996) share 83% nucleotide sequence identity and 85% amino acid identity. The authors stated that, because of the lack of a neuromuscular phenotype in MLS, it is uncertain how the deletion of a mitochondrial holocytochrome synthetase would contribute to the phenotype seen in MLS.

Reference

"Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)."
Genomics 34:166-172(1996) [PubMed] [Europe PMC] [Abstract]

"Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome."
Am. J. Med. Genet. 78:179-181(1998) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome."
Am. J. Hum. Genet. 79:878-889(2006) [PubMed] [Europe PMC] [Abstract]