HCCS (gene)
| Holocytochrome c synthase | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | HCCS ; CCHL; MCOPS7; MLS | ||||||||||||
| External IDs | OMIM: 300056 MGI: 106911 HomoloGene: 3897 GeneCards: HCCS Gene | ||||||||||||
| EC number | 4.4.1.17 | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 3052 | 15159 | |||||||||||
| Ensembl | ENSG00000004961 | ENSMUSG00000031352 | |||||||||||
| UniProt | P53701 | P53702 | |||||||||||
| RefSeq (mRNA) | NM_001122608 | NM_008222 | |||||||||||
| RefSeq (protein) | NP_001116080 | NP_032248 | |||||||||||
| Location (UCSC) | Chr X: 11.13 – 11.14 Mb | Chr X: 169.25 – 169.32 Mb | |||||||||||
| PubMed search | |||||||||||||
Cytochrome c-type heme lyase is an enzyme that in humans is encoded by the HCCS gene.[1]
See also
References
External links
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.
- 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.
- 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.
- 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.