产品名称
AL7A1 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/501
Human Swissprot No.
P49419
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P49419/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/110695
Mouse Swissprot No.
Q9DBF1
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9DBF1
Rat Gene Link
https://www.uniprot.org/uniprot/291450
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/Q64057
免疫原
Synthesized peptide derived from human AL7A1 AA range: 229-279
特异性
This antibody detects endogenous levels of AL7A1 at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
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. [provided by RefSeq, Jan 2011],
组织表达
Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.
细胞定位
[Isoform 2]: Cytoplasm, cytosol . Nucleus .; [Isoform 1]: Mitochondrion .
功能
catalytic activity:L-2-aminoadipate 6-semialdehyde + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H.,disease:Defects in ALDH7A1 are the cause of pyridoxine-dependent epilepsy (PDE) [MIM:266100]. PDE is characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.,similarity:Belongs to the aldehyde dehydrogenase family.,subunit:Homotetramer.,tissue specificity:Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
