HCCS
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| holocytochrome c synthase | MIM:300056 | Ensembl:ENSG00000004961 | HGNC:HGNC:4837 | PA29214 | Xp22.2 |
GO terms in HCCS
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0009887 | animal organ morphogenesis |
| BP | IBA | GO:0018063 | cytochrome c-heme linkage |
| BP | TAS | GO:0055114 | oxidation-reduction process |
| CC | IBA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | IEA | GO:0005743 | mitochondrial inner membrane |
| MF | IBA | GO:0004408 | holocytochrome-c synthase activity |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: HCCS
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HCCS
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00860 | Porphyrin and chlorophyll metabolism - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HCCS
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.