3 Ontology Annotations
| GO Term | Gene Name |
|---|---|
| GO:0008495 | IPR016315 |
| GO:0006783 | IPR016315 |
| GO:0031966 | IPR016315 |
| Type: | Family | Name: | Protohaem IX farnesyltransferase, mitochondria |
| Description: | This entry represents protohaem IX (haem A) farnesyltransferase (), the product of the COX10 gene. This enzyme occurs in the mitochondrial membrane and catalyses the first step in the conversion of protohaem to the haem A prosthetic groups of the enzyme, namely the conversion of protohaem IX and farnesyl diphosphate to haem O. Haem O and/or haem A are specifically synthesised for the haem-copper respiratory oxidases []. Deficiencies in COX10 are a cause of Leigh syndrome (LS) (OMIM:256000), which is a severe neurological disorder characterised by bilaterally symmetrical necrotic lesions in subcortical brain regions []. | Short Name: | Protohaem_IX_farnesylTrfase_mt |
| GO Term | Gene Name |
|---|---|
| GO:0008495 | IPR016315 |
| GO:0006783 | IPR016315 |
| GO:0031966 | IPR016315 |
