MMADHC Antibody, Biotin conjugated (PACO58535)
- SKU:
- PACO58535
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- Biotin
Frequently bought together:
Description
抗体名: | MMADHC Antibody, Biotin conjugated (PACO58535) |
抗体コード: | PACO58535 |
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 Methylmalonic acid, ria and homocystinuria type D protein, mitochondrial protein (26-142AA) |
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: | Involved in cobalamin metabolism. Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin. Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin. Promotes oxidation of cob(II)alamin bound to MMACHC. |
シノニム: | Methylmalonic acid, ria and homocystinuria type D protein, mitochondrial (CblD), MMADHC, C2orf25 CL25022 |
UniProt Protein Function: | MMADHC: Involved in cobalamin metabolism. Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). |
UniProt Protein Details: | Chromosomal Location of Human Ortholog: 2q23.2 Cellular Component: cytosol Biological Process: cobalamin metabolic process Disease: Methylmalonic Aciduria And Homocystinuria, Cbld Type |
NCBI Summary: | This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] |
UniProt Code: | Q9H3L0 |
NCBI GenInfo Identifier: | 68565296 |
NCBI Gene ID: | 27249 |
NCBI Accession: | Q9H3L0.2 |
UniProt Secondary Accession: | Q9H3L0,O95891, B2R895, D3DP91, |
UniProt Related Accession: | Q9H3L0 |
Molecular Weight: | 32,940 Da |
NCBI Full Name: | Methylmalonic aciduria and homocystinuria type D protein, mitochondrial |
NCBI Synonym Full Names: | methylmalonic aciduria and homocystinuria, cblD type |
NCBI Official Symbol: | MMADHC |
NCBI Official Synonym Symbols: | cblD; C2orf25; CL25022 |
NCBI Protein Information: | methylmalonic aciduria and homocystinuria type D protein, mitochondrial |
UniProt Protein Name: | Methylmalonic aciduria and homocystinuria type D protein, mitochondrial |
Protein Family: | Methylmalonic aciduria and homocystinuria |
UniProt Gene Name: | MMADHC |
UniProt Entry Name: | MMAD_HUMAN |