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Immunogen sequence: WMFPMAMVC GNTFLMKPSE RVPGATMLLA KLLQDSGAPD GTLNIIHGQH EAVNFICDHP DIKAISFVGS NKAGEYIFER GSRHGKRVQA NMGAKNHGVV MPDANKENTL NQLVGAAFGA AGQRCMALST AVLVGEAKKW LPELVEHAKN LRVNAGDQPG ADLGPLITPQ AKERVCNLID SGTKEGASIL LDGRKIKVKG YENGNFVGPT IISNVKPNMT CYKEEIFGPV LVVLETETLD EAIQIVNNNP YGNGTAIFTT NGATARKYAH LVDVGQVGVN VPIPVPLPMF SFTGSRSSFR GDTNFYGKQG IQFYTQLKTI TSQWKEEDAT LSSPAVVMPT MGR (194-535 aa encoded by BC004909)
This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: aldehyde dehydrogenase 6 family, member A1; Aldehyde dehydrogenase family 6 member A1; aldehyde dehydrogenase family 6, subfamily A1; malonate-semialdehyde dehydrogenase; Malonate-semialdehyde dehydrogenase [acylating]; methylmalonate semialdehyde dehydrogenase; methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; Methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial; MGC40271; mitochondrial acylating methylmalonate-semialdehyde dehydrogenase; MMSDH; testicular tissue protein Li 122
Gene Aliases: 1110038I05Rik; AI314632; ALDH6A1; MMSADHA; MMSDH
UniProt ID: (Human) Q02252, (Rat) Q02253, (Mouse) Q9EQ20
Entrez Gene ID: (Human) 4329, (Rat) 81708, (Mouse) 104776
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