Cloned (Comment) | Organism |
---|---|
expressed in HEK-239T, COS7 and Hela cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L81R | the mutation is responsible for autosomal recessive optic neuropathy | Homo sapiens |
L81R/R212W | the mutation is responsible for autosomal recessive optic neuropathy | Homo sapiens |
R212W | the mutation is responsible for autosomal recessive optic neuropathy | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
malonyl-CoA + an [acyl-carrier protein] | Homo sapiens | - |
CoA + a malonyl-[acyl-carrier protein] | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
retinal ganglion cell | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
malonyl-CoA + an [acyl-carrier protein] | - |
Homo sapiens | CoA + a malonyl-[acyl-carrier protein] | - |
? |
Synonyms | Comment | Organism |
---|---|---|
malonyl-CoA-acyl carrier protein transacylase | - |
Homo sapiens |
MCAT | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | disease variants of the enzyme lead to a structurally unstable protein with significantly reduced intracellular expression | Homo sapiens |
physiological function | the enzyme plays an essential role in mitochondrial function and maintenance of retinal ganglion cell axons | Homo sapiens |