ALDH7A1
Encyclopedia
Aldehyde dehydrogenase 7 family, member A1 also known as ALDH7A1 or antiquitin is an enzyme
that in humans is encoded by the ALDH7A1 gene
.
s 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.
Antiquitin functions as an aldehyde dehydrogenase in the pipecolic acid
pathway of lysine
catabolism
.
, which involves a combination of various seizure types and is responsive to immediate administration of pyridoxine hydrochloride.
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
that in humans is encoded by the ALDH7A1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
Antiquitin 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 aldehydeAldehyde
An aldehyde is an organic compound containing a formyl group. This functional group, with the structure R-CHO, consists of a carbonyl center bonded to hydrogen and an R group....
s generated by alcohol metabolism and lipid peroxidation
Lipid peroxidation
Lipid peroxidation refers to the oxidative degradation of lipids. It is the process in which free radicals "steal" electrons from the lipids in cell membranes, resulting in cell damage. This process proceeds by a free radical chain reaction mechanism...
. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein.
Antiquitin functions as an aldehyde dehydrogenase in the pipecolic acid
Pipecolic acid
Pipecolic acid is a small organic molecule which accumulates in pipecolic acidemia. It is the carboxylic acid of piperidine.It can be associated with some forms of epilepsy....
pathway of lysine
Lysine
Lysine is an α-amino acid with the chemical formula HO2CCH4NH2. It is an essential amino acid, which means that the human body cannot synthesize it. Its codons are AAA and AAG....
catabolism
Catabolism
Catabolism is the set of metabolic pathways that break down molecules into smaller units and release energy. In catabolism, large molecules such as polysaccharides, lipids, nucleic acids and proteins are broken down into smaller units such as monosaccharides, fatty acids, nucleotides, and amino...
.
Clinical significance
Mutations in this gene cause pyridoxine-dependent epilepsyPyridoxine-dependent epilepsy
Pyridoxine-dependent epilepsy or pyridoxine-dependent seizure is an extremely rare disorder characterised by intractable seizures in newborn children that require lifelong B6 supplementation to treat. The disorder was first recognized in the 1950, with the first description provided by Hunt et...
, which involves a combination of various seizure types and is responsive to immediate administration of pyridoxine hydrochloride.