Rabbit anti-Human ALDH18A1 Polyclonal Antibody

Uniprot Id

P54886

Target Species

Human

Target Name

ALDH18A1

Target Full Name

Delta-1-pyrroline-5-carboxylate synthase

Target Function

Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.

Target Involvement

Cutis laxa, autosomal recessive, 3A (ARCL3A); Cutis laxa, autosomal dominant, 3 (ADCL3); Spastic paraplegia 9A, autosomal dominant (SPG9A); Spastic paraplegia 9B, autosomal recessive (SPG9B)

Target Subcellular Location

Mitochondrion inner membrane.

Target Protein Families

Glutamate 5-kinase family; Gamma-glutamyl phosphate reductase family

Target Synonyms

2810433K04Rik; AI429789; Aldehyde dehydrogenase 18 family member A1; Aldehyde dehydrogenase 18A1; Aldehyde dehydrogenase family 18 member A1; ALDH18A1; Delta 1 pyrroline 5 carboxylate synthetase; Delta1 pyrroline 5 carboxlate synthetase; Gamma-glutamyl kinase; Gamma-glutamyl phosphate reductase; GK; Glutamate-5-semialdehyde dehydrogenase; Glutamyl-gamma-semialdehyde dehydrogenase; GPR; GSAS; MGC117316; MGC32233; P5CS; P5CS_HUMAN; PYCS; Pyrroline 5 carboxylate synthetase (glutamate gamma semialdehyde synthetase)

Target Background

This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene.