HCCS (gene)

Holocytochrome c synthase
Identifiers
Symbols	HCCS; CCHL; DKFZp779I1858; MCOPS7
External IDs	OMIM: 300056 MGI: 106911 HomoloGene: 3897 GeneCards: HCCS Gene
EC number	4.4.1.17
Gene Ontology Molecular function • holocytochrome-c synthase activity • lyase activity • metal ion binding Cellular component • mitochondrion • mitochondrial inner membrane • membrane Biological process • organ morphogenesis • oxidation-reduction process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3052	15159
Ensembl	ENSG00000004961	ENSMUSG00000031352
UniProt	P53701	Q6P5G5
RefSeq (mRNA)	NM_001122608.2	NM_008222.4
RefSeq (protein)	NP_001116080.1	NP_032248.3
Location (UCSC)	Chr X: 11.13 – 11.14 Mb	Chr X: 165.69 – 165.76 Mb
PubMed search	[1]	[2]

Cytochrome c-type heme lyase is an enzyme that in humans is encoded by the HCCS gene.

See also

• Microphthalmia–dermal aplasia–sclerocornea syndrome

External links

• GeneReview/NIH/UW entry on Microphthalmia with Linear Skin Defects Syndrome

Further reading

• Wapenaar MC, Bassi MT, Schaefer L, et al. (1993). "The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.". Hum. Mol. Genet. 2 (7): 947–52. doi:10.1093/hmg/2.7.947. PMID 8364577. 
• Schaefer L, Ballabio A, Zoghbi HY (1997). "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 (2): 166–72. doi:10.1006/geno.1996.0261. PMID 8661044. 
• Van den Veyver IB, Subramanian S, Zoghbi HY (1998). "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 (2): 179–81. doi:10.1002/(SICI)1096-8628(19980630)78:2<179::AID-AJMG17>3.0.CO;2-K. PMID 9674913. 
• Schwarz QP, Cox TC (2002). "Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c.". Genomics 79 (1): 51–7. doi:10.1006/geno.2001.6677. PMID 11827457. 
• Prakash SK, Cormier TA, McCall AE, et al. (2003). "Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome.". Hum. Mol. Genet. 11 (25): 3237–48. doi:10.1093/hmg/11.25.3237. PMID 12444108. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Nakashima-Kamimura N, Asoh S, Ishibashi Y, et al. (2006). "MIDAS/GPP34, a nuclear gene product, regulates total mitochondrial mass in response to mitochondrial dysfunction.". J. Cell. Sci. 118 (Pt 22): 5357–67. doi:10.1242/jcs.02645. PMID 16263763. 
• Wimplinger I, Morleo M, Rosenberger G, et al. (2006). "Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.". Am. J. Hum. Genet. 79 (5): 878–89. doi:10.1086/508474. PMC 1698567. PMID 17033964. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1698567. 
• Wimplinger I, Shaw GM, Kutsche K (2007). "HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?". Mol. Vis. 13: 1475–82. PMID 17893649.