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Holocytochrome c synthase

HCCS, holocytochrome c-type synthase, holocytochrome c synthase
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. [provided by RefSeq, Jan 2010] (from NCBI)
Top mentioned proteins: CAN, ACID, MIDAS, PrP, HAD
Papers on HCCS
Mitochondrial cytochrome c biogenesis: no longer an enigma.
Review
New
Kranz et al., Saint Louis, United States. In Trends Biochem Sci, Aug 2015
Heme attachment is catalyzed in most mitochondria by holocytochrome c synthase (HCCS), which is also necessary for the import of apocytochrome c (apocyt c).
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
New
Kutsche et al., Hamburg, Germany. In Am J Hum Genet, May 2015
MLS syndrome is genetically heterogeneous given that heterozygous mutations in HCCS or COX7B have been identified in MLS-affected females.
Whole exome sequence analysis of Peters anomaly.
Semina et al., Milwaukee, United States. In Hum Genet, 2014
Analysis of 691 additional genes currently associated with a different ocular phenotype identified a heterozygous splicing mutation c.1025+2T>A in TFAP2A, a de novo heterozygous nonsense mutation c.715C>T, p.(Gln239*) in HCCS, a hemizygous mutation c.385G>A, p.(Glu129Lys) in NDP, a hemizygous mutation c.3446C>T, p.(Pro1149Leu) in FLNA, and compound heterozygous mutations c.1422T>A, p.(Tyr474*) and c.2544G>A, p.(Met848Ile) in SLC4A11; all mutations, except for the FLNA and SLC4A11 c.2544G>A alleles, are novel.
Mechanisms of mitochondrial holocytochrome c synthase and the key roles played by cysteines and histidine of the heme attachment site, Cys-XX-Cys-His.
Kranz et al., Saint Louis, United States. In J Biol Chem, 2014
The enzyme holocytochrome c synthase (HCCS) binds heme and apocytochrome c substrate to catalyze this attachment, subsequently releasing holocytochrome c for proper folding to its native structure.
Substrate recognition of holocytochrome c synthase: N-terminal region and CXXCH motif of mitochondrial cytochrome c.
Ferguson et al., Oxford, United Kingdom. In Febs Lett, 2014
Holocytochrome c synthase (HCCS) attaches heme covalently to mitochondrial respiratory cytochromes c.
Conserved residues of the human mitochondrial holocytochrome c synthase mediate interactions with heme.
Kranz et al., Saint Louis, United States. In Biochemistry, 2014
Heme attachment takes place in the mitochondrial intermembrane space and, in most eukaryotes, is mediated by holocytochrome c synthase (HCCS).
Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.
Kutsche et al., Pelotas, Brazil. In An Bras Dermatol, 2014
An interstitial microdeletion at Xp22.2, encompassing the entire HCCS gene, was identified.
Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion.
Legrottaglie et al., Bari, Italy. In Bmc Pediatr, 2013
The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located.
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
Kutsche et al., Hamburg, Germany. In Orphanet J Rare Dis, 2013
HCCS encodes the holocytochrome c-type synthase involved in mitochondrial oxidative phosphorylation (OXPHOS) and programmed cell death.
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.
Franco et al., Napoli, Italy. In Embo Mol Med, 2013
Now we provide the evidence that non-canonical mitochondrial dependent apoptosis explains the phenotype of microphthalmia with linear skin lesions (MLS), an X-linked developmental disorder caused by mutations in the holocytochrome c-type synthase (HCCS)gene [corrected].
Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.
Menten et al., Gent, Belgium. In Mol Vis, 2012
Array comparative genomic hybridization analysis revealed a 185-220 kb deletion on chromosome band Xp22.2 including the entire HCCS gene.
Cytochrome‚ÄÉc biogenesis in mitochondria--Systems III and V.
Review
Allen, Oxford, United Kingdom. In Febs J, 2011
Three types of biogenesis system are found or predicted in mitochondria: System I (the cytochrome c maturation system); System III (termed holocytochrome c synthase (HCCS) or heme lyase); and System V.
Microphthalmia with Linear Skin Defects Syndrome
Review
Franco et al., Seattle, United States. In Unknown Journal, 2009
DIAGNOSIS/TESTING: Diagnosis is based on clinical findings and detection of either a chromosomal abnormality that results in monosomy for Xp22 or mutation of HCCS, the only gene known to be associated with MLS syndrome.
Microphthalmia with linear skin defects: a case report and review.
Review
Stein et al., Chicago, United States. In Pediatr Dermatol, 2008
This is an area that has been found to include the HCCS gene, which encodes a holocytochrome c-type synthase believed to be critical in the regulation of apoptosis.
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?
GeneRIF
Kutsche et al., Hamburg, Germany. In Mol Vis, 2006
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.
Recent patents relating to tumor suppressor genes.
Review
Chang et al., Chicago, United States. In Recent Pat Dna Gene Seq, 2006
Some of the patents and patent applications discuss newly discovered tumor suppressor genes, including WW Domain-Containing Oxidoreductase (WWOX), Cancer Associated Ring-1 (CAR-1), Human Cervical Cancer Suppressor 1 (HCCS-1), Src-suppressed C kinase substrate (SSeCKS), ADP-Ribosylation factor-like putative Tumor Suppressor gene 1 (ARTS1), and Deleted in Osteosarcoma (DOS).
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
GeneRIF
Kutsche et al., Hamburg, Germany. In Am J Hum Genet, 2006
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
Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome.
GeneRIF
Van Den Veyver et al., Houston, United States. In Hum Mol Genet, 2003
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.
Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice.
GeneRIF
Van den Veyver et al., Houston, United States. In Mamm Genome, 2001
Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice
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