The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

HCCS  -  holocytochrome c synthase

Homo sapiens

Synonyms: CCHL, Cytochrome c-type heme lyase, Holocytochrome c-type synthase, MCOPS7, MLS
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of HCCS


High impact information on HCCS

  • In two female patients, from two families, with MLS and a normal karyotype, we identified heterozygous de novo point mutations--a missense mutation (p.R217C) and a nonsense mutation (p.R197X)--in the HCCS gene [4].
  • We hypothesize that the inability of HCCS-deficient cells to undergo cytochrome c-mediated apoptosis may push cell death toward necrosis that gives rise to severe deterioration of the affected tissues [4].
  • Moreover, ectopically expressed HCCS wild-type and the R217C mutant protein are targeted to mitochondria in CHO-K1 cells, whereas the C-terminal-truncated Delta 197-268 mutant failed to be sorted to mitochondria [4].
  • Cytochrome c, the final product of holocytochrome c-type synthase activity, is implicated in both oxidative phosphorylation (OXPHOS) and apoptosis [4].
  • This lethality is rescued by expression of the human HCCS gene from a transgenic BAC, resulting in viable homozygous, heterozygous and hemizygous deleted mice with no apparent phenotype [5].

Biological context of HCCS

  • In the presence of the HCCS transgene, the deletion is easily transmitted to subsequent generations [5].
  • Based on its chromosomal location and its role in the mitochondrial respiratory chain, we analyzed HCCS as a candidate gene for RTT [6].
  • Various bacterial genomes contain multiple copies of CCHL-encoding genes, suggesting the presence of non-conventional or even as yet unrecognized haem c-binding motifs [2].

Associations of HCCS with chemical compounds

  • In a further attempt to understand the spectrum, we have studied the laser-induced fluorescence spectra of jet-cooled HCCS and DCCS, produced from thiophene precursors using the discharge jet technique [7].

Analytical, diagnostic and therapeutic context of HCCS


  1. Isolation of PAH-degrading bacteria from mangrove sediments and their biodegradation potential. Guo, C.L., Zhou, H.W., Wong, Y.S., Tam, N.F. Mar. Pollut. Bull. (2005) [Pubmed]
  2. Multiple haem lyase genes indicate substrate specificity in cytochrome c biogenesis. Hartshorne, S., Richardson, D.J., Simon, J. Biochem. Soc. Trans. (2006) [Pubmed]
  3. Comparison of renal excretion of chloramphenicol in patients with chronic pyelonephritis, glomerulonephritis and polycystic kidneys. Prát, V., Grafnetterová, J., Schück, O., Kotanová, E. International journal of clinical pharmacology and biopharmacy. (1976) [Pubmed]
  4. Mutations of the Mitochondrial Holocytochrome c-Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome. Wimplinger, I., Morleo, M., Rosenberger, G., Iaconis, D., Orth, U., Meinecke, P., Lerer, I., Ballabio, A., Gal, A., Franco, B., Kutsche, K. Am. J. Hum. Genet. (2006) [Pubmed]
  5. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Prakash, S.K., Cormier, T.A., McCall, A.E., Garcia, J.J., Sierra, R., Haupt, B., Zoghbi, H.Y., Van Den Veyver, I.B. Hum. Mol. Genet. (2002) [Pubmed]
  6. Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. Van den Veyver, I.B., Subramanian, S., Zoghbi, H.Y. Am. J. Med. Genet. (1998) [Pubmed]
  7. Is the HCCS radical linear in the excited state? He, S.G., Clouthier, D.J. The Journal of chemical physics. (2004) [Pubmed]
  8. Hepatocellular carcinoma: long-term results of combined treatment with laser thermal ablation and transcatheter arterial chemoembolization. Pacella, C.M., Bizzarri, G., Cecconi, P., Caspani, B., Magnolfi, F., Bianchini, A., Anelli, V., Pacella, S., Rossi, Z. Radiology. (2001) [Pubmed]
WikiGenes - Universities