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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 Kits (13) and Holocytochrome C Synthase Proteins (7) and many more products for this protein.
Showing 10 out of 79 products:
Human Polyclonal HCCS Primary Antibody for IHC (p), WB - ABIN952686
Prakash, Cormier, McCall, Garcia, Sierra, Haupt, Zoghbi, Van Den Veyver: Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. in Human molecular genetics 2002
Show all 3 references for ABIN952686
Human Polyclonal HCCS Primary Antibody for IHC (p), WB - ABIN653839
Need, Attix, McEvoy, Cirulli, Linney, Hunt, Ge, Heinzen, Maia, Shianna, Weale, Cherkas, Clement, Spector, Gibson, Goldstein: A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. in Human molecular genetics 2009
Show all 2 references for ABIN653839
Human Polyclonal HCCS Primary Antibody for IF, IHC - ABIN1534309
Schaefer, Ballabio, Zoghbi: 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). in Genomics 1997
cysteines and histidine of the heme attachment site, Cys (show DNAJC5 Antibodies)-XX-Cys (show DNAJC5 Antibodies)-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 Antibodies) 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 Antibodies) 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 Antibodies), Hccs, Arhgap6 (show ARHGAP6 Antibodies), and Msl3l1 (show MSL3 Antibodies) in X-linked polydactyly (Xpl) and Patchy-fur (Paf (show KIAA0101 Antibodies)) 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