Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.3.1.7 extracted from

  • Laera, L.; Punzi, G.; Porcelli, V.; Gambacorta, N.; Trisolini, L.; Pierri, C.L.; De Grassi, A.
    CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome (2020), Hum. Mutat., 41, 110-114 .
    View publication on PubMed
Search for more literature for 2.3.1.7

Cloned(Commentary)

Cloned (Comment) Organism
expression in Escherichia coli Homo sapiens

Protein Variants

Protein Variants Comment Organism
V569M missense variant idientified in a patient affected by Leigh syndrome. Proband-derived fibroblasts show carnitine acetyltransferase deficiency. The mutation severely impairs catalytic function toward acetyl-CoA, and also toward propionyl-CoA and octanoyl-CoA, reducing the Vmax of acetyl-CoA, propionyl-CoA, and octanoyl-CoA to 24%, 29%, and 27%, respectively, of wild-type Homo sapiens
Y110C missense variant idientified in a patient affected by Leigh syndrome. Proband-derived fibroblasts show carnitine acetyltransferase deficiency. The mutation severely impairs catalytic function toward acetyl-CoA, reducing the Vmax toward acetyl-CoA, propionyl-CoA, and octanoyl-CoA to 32%, 45%, and 61% of wild-type Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P43155
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
acetyl-CoA + carnitine
-
 Homo sapiens CoA + O-acetylcarnitine
-
 ?
octanoyl-CoA + carnitine
-
 Homo sapiens CoA + O-octanoylcarnitine
-
 ?
propionyl-CoA + carnitine
-
 Homo sapiens CoA + O-propionylcarnitine
-
 ?

Synonyms

Synonyms Comment Organism
CRAT
-
 Homo sapiens