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The protein encoded by HCCS is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Additionally we are shipping Holocytochrome C Synthase Antibodies (81) and Holocytochrome C Synthase Proteins (7) and many more products for this protein.
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cysteines and histidine of the heme attachment site, Cys (show DNAJC5 ELISA Kits)-XX-Cys (show DNAJC5 ELISA Kits)-His play a key role in mitochondrial holocytochrome c synthase
These data indicate that heme contacts mediated by residues within these domains modulate the dynamics of heme binding and contribute to the stability of the HCCS-heme-cytochrome c (show CYCS ELISA Kits) steady state ternary complex.
Identification of a deletion in two patients, including HCCS, leads to the diagnosis of microphthalmia with linear skin defects syndrome
Spectroscopic analyses of HCCS alone and complexes of HCCS with site-directed variants of cytochrome c (show CYCS ELISA Kits) revealed the fundamental steps of heme attachment and maturation.
Through the study of genetically engineered mice, the loss of HCCS is demonstrated to cause the male lethality of microphthalmia with linear skin defects (MLS) syndrome.
mutant proteins (R217C and Delta 197-268) were unable to complement a Saccharomyces cerevisiae mutant deficient for the HCCS orthologue Cyc3p, in contrast to wild-type HCCS
Missense mutation p.E159K of HCCS, leading to loss-of-function of encoded holocytochrome c-type synthase, in female with microphthalmia of both eyes and bilateral sclerocornea may suggest HCCS as candidate for severe ocular manifestations.
Analysis of Mid1 (show MID1 ELISA Kits), Hccs, Arhgap6 (show ARHGAP6 ELISA Kits), and Msl3l1 (show MSL3 ELISA Kits) in X-linked polydactyly (Xpl) and Patchy-fur (Paf (show KIAA0101 ELISA Kits)) mutant mice
The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene.
cytochrome c-type heme lyase
, holocytochrome c synthetase b
, holocytochrome c synthase (cytochrome c heme-lyase)
, holocytochrome c synthase
, cytochrome c heme-lyase
, holocytochrome c-type synthase
, holocytochrome c synthetase