Identity
HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
CCHL,LSDMCA1,MCOPS7,MLS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3052
MIM: 300056
HGNC: 4837
Ensembl: ENSG00000004961
Variants:
dbSNP: 3052
ClinVar: 3052
TCGA: ENSG00000004961
COSMIC: HCCS
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Porphyrin and chlorophyll metabolism | KEGG | ko00860 |
| Porphyrin and chlorophyll metabolism | KEGG | hsa00860 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35243551 | 2022 | The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta. | 1 |
| 35243551 | 2022 | The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta. | 1 |
| 28617588 | 2017 | Biosynthesis of Single Thioether c-Type Cytochromes Provides Insight into Mechanisms Intrinsic to Holocytochrome c Synthase (HCCS). | 3 |
| 28617588 | 2017 | Biosynthesis of Single Thioether c-Type Cytochromes Provides Insight into Mechanisms Intrinsic to Holocytochrome c Synthase (HCCS). | 3 |
| 27387500 | 2016 | Molecular Basis Behind Inability of Mitochondrial Holocytochrome c Synthase to Mature Bacterial Cytochromes: DEFINING A CRITICAL ROLE FOR CYTOCHROME c α HELIX-1. | 7 |
| 27387500 | 2016 | Molecular Basis Behind Inability of Mitochondrial Holocytochrome c Synthase to Mature Bacterial Cytochromes: DEFINING A CRITICAL ROLE FOR CYTOCHROME c α HELIX-1. | 7 |
| 25054239 | 2014 | Conserved residues of the human mitochondrial holocytochrome c synthase mediate interactions with heme. | 11 |
| 25170082 | 2014 | Mechanisms of mitochondrial holocytochrome c synthase and the key roles played by cysteines and histidine of the heme attachment site, Cys-XX-Cys-His. | 16 |
| 25054239 | 2014 | Conserved residues of the human mitochondrial holocytochrome c synthase mediate interactions with heme. | 11 |
| 25170082 | 2014 | Mechanisms of mitochondrial holocytochrome c synthase and the key roles played by cysteines and histidine of the heme attachment site, Cys-XX-Cys-His. | 16 |
| 23150584 | 2013 | Human mitochondrial holocytochrome c synthase's heme binding, maturation determinants, and complex formation with cytochrome c. | 28 |
| 23401659 | 2013 | Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome. | 7 |
| 23150584 | 2013 | Human mitochondrial holocytochrome c synthase's heme binding, maturation determinants, and complex formation with cytochrome c. | 28 |
| 23401659 | 2013 | Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome. | 7 |
| 17893649 | 2007 | HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? | 18 |
Citation
Dessen P
HCCS (holocytochrome c synthase)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47052/hccs
