Literature summary for 4.4.1.17 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.

Search for more literature for 4.4.1.17

Application

Application	Comment	Organism
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

Protein Variants

Protein Variants	Comment	Organism
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
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

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	female patients with microphthalmia with linear skin defects syndrome, i.e. MLS or MIDAS	-

Synonyms

Synonyms	Comment	Organism
HCCS	-	Homo sapiens

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Release 2023.1 (January 2023)