HCCS (holocytochrome c synthase)

2007-04-01  

Identity

HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
CCHL,LSDMCA1,MCOPS7,MLS
FUSION GENES

Other Information

Locus ID:

NCBI: 3052
MIM: 300056
HGNC: 4837
Ensembl: ENSG00000004961

Variants:

dbSNP: 3052
ClinVar: 3052
TCGA: ENSG00000004961
COSMIC: HCCS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000004961ENST00000321143P53701
ENSG00000004961ENST00000321143A0A024RBY9
ENSG00000004961ENST00000380762P53701
ENSG00000004961ENST00000380762A0A024RBY9
ENSG00000004961ENST00000380763P53701
ENSG00000004961ENST00000380763A0A024RBY9

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Porphyrin and chlorophyll metabolismKEGGko00860
Porphyrin and chlorophyll metabolismKEGGhsa00860

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
170339642006Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.29
124441082002Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome.14
231505842013Human mitochondrial holocytochrome c synthase's heme binding, maturation determinants, and complex formation with cytochrome c.14
178936492007HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?13
251700822014Mechanisms of mitochondrial holocytochrome c synthase and the key roles played by cysteines and histidine of the heme attachment site, Cys-XX-Cys-His.7
234016592013Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.6
250542392014Conserved residues of the human mitochondrial holocytochrome c synthase mediate interactions with heme.5
273875002016Molecular Basis Behind Inability of Mitochondrial Holocytochrome c Synthase to Mature Bacterial Cytochromes: DEFINING A CRITICAL ROLE FOR CYTOCHROME c α HELIX-1.3
286175882017Biosynthesis of Single Thioether c-Type Cytochromes Provides Insight into Mechanisms Intrinsic to Holocytochrome c Synthase (HCCS).0

Citation

Dessen P

HCCS (holocytochrome c synthase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47052/hccs