| Description : |
This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein 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. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] |
| Source : |
In Vitro Cell Free System |
| Species : |
Human |
| Tag : |
GST |
| Molecular Mass : |
83.49 kDa |
| Protein Length : |
535 amino acids |
| AA Sequence : |
VRARILQVSS KVKSSPTWYS ASSFSSSVPT VKLFIGGKFV ESKSDKWIDI HNPATNEVIG RVPQATKAEM DAAIASCKRA FPAWADTSVL SRQQVLLRYQ QLIKENLKEI AKLITLEQGK TLADAEGDVF RGLQVVEHAC SVTSLMMGET MPSITKDMDL YSYRLPLGVC AGIAPFNFPA MIPLWMFPMA MVCGNTFLMK PSERVPGATM LLAKLLQDSG APDGTLNIIH GQHEAVNFIC DHPDIKAISF VGSNKAGEYI FERGSRHGKR VQANMGAKNH GVVMPDANKE NTLNQLVGAA FGAAGQRCMA LSTAVLVGEA KKWLPELVEH AKNLRVNAGD QPGADLGPLI TPQAKERVCN LIDSGTKEGA SILLDGRKIK VKGYENGNFV GPTIISNVKP NMTCYKEEIF GPVLVVLETE TLDEAIQIVN NNPYGNGTAI FTTNGATARK YAHLVDVGQV GVNVPIPVPL PMFSFTGSRS SFRGDTNFYG KQGIQFYTQL KTITSQWKEE DATLSSPAVV MPTMGR |
| Applications : |
Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array |
| Storage : |
Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing. |
| Storage Buffer : |
50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |
