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Literature summary extracted from

  • Wimplinger, I.; Morleo, M.; Rosenberger, G.; Iaconis, D.; Orth, U.; Meinecke, P.; Lerer, I.; Ballabio, A.; Gal, A.; Franco, B.; Kutsche, K.
    Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome (2006), Am. J. Hum. Genet., 79, 878-889.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
4.4.1.B1 medicine microphthalmia with linear skin defects syndrome are associated with mutations-a missense mutation or a nonsense mutation in the HCCS gene, 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 Homo sapiens
4.4.1.17 medicine identification of mutations R217C and DELTA197-268 in female patients with microphthalmia with linear skin defects syndrome. In contrast to wild-type, mutant proteins are unable to complement a Saccharomyces cerevisiae mutant deficient in the yeast enzyme ortholog. Mutation results in disturbance of both oxidative phosphorylation and the balance between apoptosis and necrosis. Upon expression in CHO-K1 cells, mutant DELTA197-268 protein fails to be sorted to mitochondria Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
4.4.1.B1 of wild type and the mutant proteins in Saccharomyces cerevisiae in pYEX4Tps and in CHO-K1 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.4.1.B1 R217C by site directed mutagenesis of the human gene, expression in Saccharomyces cerevisiae and in CHO-K1 cells Homo sapiens
4.4.1.17 DELTA197-268 mutation identified in female patient with microphthalmia with linear skin defects syndrome. In contrast to wild-type, mutant protein is unable to complement a Saccharomyces cerevisiae mutant deficient in the yeast enzyme ortholog. Upon expression in CHO-K1 cells, mutant protein fails to be sorted to mitochondria. Mutation results in disturbance of both oxidative phosphorylation and the balance between apoptosis and necrosis Homo sapiens
4.4.1.17 R217C mutation identified in female patient with microphthalmia with linear skin defects syndrome. In contrast to wild-type, mutant protein is unable to complement a Saccharomyces cerevisiae mutant deficient in the yeast enzyme ortholog. Mutation results in disturbance of both oxidative phosphorylation and the balance between apoptosis and necrosis Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
4.4.1.17 mitochondrion
-
 Homo sapiens 5739
-

Organism

EC Number Organism UniProt Comment Textmining
4.4.1.B1 Homo sapiens Q68D50
-
-
4.4.1.17 Homo sapiens
-
 female patients with microphthalmia with linear skin defects syndrome, i.e. MLS or MIDAS
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.4.1.B1 apocytochrome c1 + heme
-
 Homo sapiens holocytochrome c1
-
 ?

Synonyms

EC Number Synonyms Comment Organism
4.4.1.B1 HCCS
-
 Homo sapiens
4.4.1.B1 Holocytochrome c-type synthase
-
 Homo sapiens
4.4.1.B1 holocytochrome-c1 synthase
-
 Homo sapiens
4.4.1.17 HCCS
-
 Homo sapiens