ALDH7A1
Aldehyde dehydrogenase 7 family, member A1, also known as ALDH7A1 or antiquitin, is an enzyme that in humans is encoded by the "ALDH7A1" gene. The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified.
Q8047
enzyme
Concept
Q7187
gene
Concept
Q8054
protein
Concept
Q423792
aldehyde dehydrogenase
Concept
Q1090423
detoxification
UNK
Q101497
aldehyde
Concept
Q6011565
alcohol metabolism
UNK
Q898539
lipid peroxidation
Concept
Q178430
lysine
Concept
Q21130714
catabolism
Concept
Q3493378
mitochondrial matrix
Concept
Q220599
cytosol
Concept
Q39572
mitochondria
Concept
Q7553
translation
Concept
Q609809
isoform
Concept
Q7263591
pyridoxine-dependent epilepsy
Concept
Q277338
pseudogenes
Concept
Q17833695
ALDH7A1
Concept
Q17833695
ALDH7A1
Concept
+7^^http://www.w3.org/2001/XMLSchema#decimal
7
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+7^^http://www.w3.org/2001/XMLSchema#decimal
7
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+7^^http://www.w3.org/2001/XMLSchema#decimal
7
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+7^^http://www.w3.org/2001/XMLSchema#decimal
7
NUMBER
+26^^http://www.w3.org/2001/XMLSchema#decimal
26
NUMBER
instance of
genetic association
instance of