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Literature summary extracted from

  • Li, H.; Yuan, S.; Minegishi, Y.; Suga, A.; Yoshitake, K.; Sheng, X.; Ye, J.; Smith, S.; Bunkoczi, G.; Yamamoto, M.; Iwata, T.
    Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy (2020), Hum. Mol. Genet., 29, 444-458 .
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.3.1.39 expressed in HEK-239T, COS7 and Hela cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.3.1.39 L81R the mutation is responsible for autosomal recessive optic neuropathy Homo sapiens
2.3.1.39 L81R/R212W the mutation is responsible for autosomal recessive optic neuropathy Homo sapiens
2.3.1.39 R212W the mutation is responsible for autosomal recessive optic neuropathy Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.3.1.39 mitochondrion
-
 Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.3.1.39 malonyl-CoA + an [acyl-carrier protein] Homo sapiens
-
 CoA + a malonyl-[acyl-carrier protein]
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.3.1.39 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.3.1.39 retinal ganglion cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.3.1.39 malonyl-CoA + an [acyl-carrier protein]
-
 Homo sapiens CoA + a malonyl-[acyl-carrier protein]
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.3.1.39 malonyl-CoA-acyl carrier protein transacylase
-
 Homo sapiens
2.3.1.39 MCAT
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.3.1.39 malfunction disease variants of the enzyme lead to a structurally unstable protein with significantly reduced intracellular expression Homo sapiens
2.3.1.39 physiological function the enzyme plays an essential role in mitochondrial function and maintenance of retinal ganglion cell axons Homo sapiens