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Immunogen sequence: YGDIIHTPA KDRRALVLKQ PIGVAAVITP WNFPSAMITR KVGAALAAGC TVVVKPAEDT PFSALALAEL ASQAGIPSGV YNVIPCSRKN AKEVGEAICT DPLVSKISFT GSTTTGKILL HHAANSVKRV SMELGGLAPF IVFDSANVDQ AVAGAMASKF RNTGQTCVCS NQFLVQRGIH DAFVKAFAEA MKKNLRVGNG FEEGTTQGPL INEKAVEKVE KQVNDAVSKG ATVVTGGKRH QLGKNFFEPT LLCNVTQDML CTHEETFGPL APVIKFDTEE EAIAIANAAD VGLAGYFYSQ DPAQIWRVAE QLEVGMVGVN EGLISSVECP FGGVKQSGLG REGSKYGIDE YLELKYVCYG GL (175-535 aa encoded by BC034321)
Aldh5A1 is a member of the aldehyde dehydrogenase superfamily, a group of NAD(P)(+)-dependent enzymes that catalyze the oxidation of a wide spectrum of aliphatic and aromatic aldehydes. Aldehyde dehydrogenase enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. Aldh5A1 is a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, results in a disorder of the neurotransmitter 4-aminobutyric acid (GABA). Symptoms usually include static encephalopathy, associated with developmental delays, hypotonia, ataxia, speech defects, and seizures. At least two isoforms of Aldh5A1 are known to exist.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: aldehyde dehydrogenase 1, mitochondrial; aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase); Aldehyde dehydrogenase family 5 member A1; aldehyde dehydrogenase family 5, subfamily A1; mitochondrial succinate semialdehyde dehydrogenase; NAD(+)-dependent succinic semialdehyde dehydrogenase; Succinate-semialdehyde dehydrogenase, mitochondrial; succinic semialdehyde dehydrogenase
基因别名: 6330403E24Rik; Ahd-1; Ahd1; ALDH5A1; D630032B01Rik; OTTMUSG00000000613; SSADH; SSDH; Ssdh1
UniProt ID: (Human) P51649, (Mouse) Q8BWF0
Entrez Gene ID: (Human) 7915, (Mouse) 214579, (Rat) 291133
分子生物学功能: dehydrogenase oxidoreductase metabolite interconversion enzyme