ALDH6A1 Antibody, Biotin conjugated (PACO48829)
- SKU:
- PACO48829
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- Biotin
Description
抗体名: | ALDH6A1 Antibody, Biotin conjugated (PACO48829) |
抗体コード: | PACO48829 |
サイズ: | 50ug |
宿主種: | Rabbit |
申し込み: | ELISA |
推奨される希釈: | |
反応性: | Human |
免疫原: | Recombinant Human Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial protein (274-399AA) |
憲法: | Liquid |
ストレージバッファ: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 |
精製方法: | >95%, Protein G purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Biotin |
バックグラウンド: | Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA. |
シノニム: | Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial (MMSDH) (Malonate-semialdehyde dehydrogenase [acylating]) (EC 1.2.1.18) (EC 1.2.1.27) (Aldehyde dehydrogenase family 6 member A1), ALDH6A1, MMSDH |
UniProt Protein Function: | ALDH6A1: Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA. Defects in ALDH6A1 are the cause of methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD). This is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Belongs to the aldehyde dehydrogenase family. |
UniProt Protein Details: | Protein type:Carbohydrate Metabolism - inositol phosphate; EC 1.2.1.27; EC 1.2.1.18; Mitochondrial; Oxidoreductase; Carbohydrate Metabolism - propanoate; Amino Acid Metabolism - valine, leucine and isoleucine degradation Chromosomal Location of Human Ortholog: 14q24.3 Cellular Component: nucleoplasm; mitochondrion; mitochondrial matrix Molecular Function:aldehyde dehydrogenase (NAD) activity; acyl-CoA binding; methylmalonate-semialdehyde dehydrogenase (acylating) activity; malonate-semialdehyde dehydrogenase (acetylating) activity Biological Process: valine catabolic process; thymine metabolic process; brown fat cell differentiation; thymine catabolic process; valine metabolic process; branched chain family amino acid catabolic process Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency |
NCBI Summary: | 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] |
UniProt Code: | Q02252 |
NCBI GenInfo Identifier: | 12643424 |
NCBI Gene ID: | 4329 |
NCBI Accession: | Q02252.2 |
UniProt Secondary Accession: | Q02252,Q9UKM8, B2R609, B4DFS8, J3KNU8, |
UniProt Related Accession: | Q02252 |
Molecular Weight: | 535 |
NCBI Full Name: | Methylmalonate-semialdehyde dehydrogenase |
NCBI Synonym Full Names: | aldehyde dehydrogenase 6 family, member A1 |
NCBI Official Symbol: | ALDH6A1 |
NCBI Official Synonym Symbols: | MMSDH; MMSADHA |
NCBI Protein Information: | methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; mitochondrial acylating methylmalonate-semialdehyde dehydrogenase |
UniProt Protein Name: | Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial |
UniProt Synonym Protein Names: | Aldehyde dehydrogenase family 6 member A1 |
UniProt Gene Name: | ALDH6A1 |
UniProt Entry Name: | MMSA_HUMAN |