UNIPROT #

P30038

PROTEIN NAME

ALDH4A1

SYNONYMS

AL4A1_HUMAN antibody; aldehyde dehydrogenase 4 antibody; aldehyde dehydrogenase 4 family, member A1 antibody; Aldehyde dehydrogenase family 4 member A1 antibody; Aldehyde dehydrogenase, family 4, subfamily A, member 1 antibody; ALDH4 antibody; aldh4a1 antibody; Delta 1 pyrroline 5 carboxylate dehydrogenase, mitochondrial antibody; Delta-1-pyrroline-5-carboxylate dehydrogenase antibody; L-glutamate gamma-semialdehyde dehydrogenase antibody; mitochondrial antibody; mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase antibody; P5C dehydrogenase antibody; P5CD antibody; P5CDh antibody; P5CDhL antibody; P5CDhS antibody; Pyrroline-5-carboxylate dehydrogenase antibody; RP11 128M10.1 antibody

SEQUENCE SIMILARITIES

Belongs to the aldehyde dehydrogenase family.

TISSUE SPECIFICITY

Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.

SUBCELLULAR LOCATION

Mitochondrion.

FUNCTION

Aldehyde dehydrogenases (ALDHs) mediate NADP+-dependent oxidation of aldehydes into acids during detoxification of alcohol-derived acetaldehyde, lipid peroxidation and metabolism of corticosteroids, biogenic amines and neurotransmitters. ALDH4A1 (aldehyde dehydrogenase 4 family member A1), also known as P5CD (Delta-1-pyrroline-5-carboxylate dehydrogenase), P5CDh, P5CDhL, P5CDhS or ALDH4, is a major enzyme involved in the proline degradation pathway. Localizing to the mitochondrial matrix, ALDH4A1 catalyzes the conversion of Delta-1-pyrroline-5-carboxylate (P5C) to glutamate. A mutation in the gene encoding ALDH4A1 results in HPII (hyperprolinemia type II), a disease characterized by an excess of P5C and proline that is associated with mental retardation and seizures.