产品名称
AL4A1 Rabbit Polyclonal Antibody
别名
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (P5C dehydrogenase) (EC 1.5.1.12) (Aldehyde dehydrogenase family 4 member A1)
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.103% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/8659
Human Swissprot No.
P30038
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P30038/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/212647
Mouse Swissprot No.
Q8CHT0
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q8CHT0
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/P0C2X9
免疫原
Synthesized peptide derived from human AL4A1 AA range: 39-89
特异性
This antibody detects endogenous levels of AL4A1 at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009],
组织表达
Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.
细胞定位
Mitochondrion matrix.
功能
catalytic activity:(S)-1-pyrroline-5-carboxylate + NAD(P)(+) + 2 H(2)O = L-glutamate + NAD(P)H.,disease:Defects in ALDH4A1 are the cause of hyperprolinemia type II (HPII) [MIM:239510]. HPII is characterized by the accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. The disorder may be causally related to neurologic manifestations, including seizures and mental retardation.,function:Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes.,pathway:Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 2/2.,similarity:Belongs to the aldehyde dehydrogenase family.,subunit:Homodimer.,tissue specificity:Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
