MCCC2 Antibody (PACO10414)
- SKU:
- PACO10414
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
抗体名: | MCCC2 Antibody (PACO10414) |
抗体コード: | PACO10414 |
サイズ: | 50ul |
宿主種: | Rabbit |
申し込み: | ELISA, WB, IHC |
推奨される希釈: | |
反応性: | Human, Mouse, Rat |
免疫原: | Human MCCC2 |
憲法: | Liquid |
ストレージバッファ: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
精製方法: | Antigen Affinity Purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
シノニム: | methylcrotonoyl-Coenzyme A carboxylase 2 (beta);MCCC2;MCCB ; |
UniProt Protein Function: | MCCC2: Defects in MCCC2 are the cause of methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D). An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. Belongs to the AccD/PCCB family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Mitochondrial; Ligase; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 6.4.1.4 Chromosomal Location of Human Ortholog: 5q12-q13 Cellular Component: cytosol; mitochondrial matrix; mitochondrion Molecular Function:methylcrotonoyl-CoA carboxylase activity; protein binding Biological Process: biotin metabolic process; branched chain family amino acid catabolic process; leucine catabolic process Disease: 3-methylcrotonyl-coa Carboxylase 2 Deficiency |
NCBI Summary: | This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q9HCC0 |
NCBI GenInfo Identifier: | 20138731 |
NCBI Gene ID: | 64087 |
NCBI Accession: | Q9HCC0.1 |
UniProt Secondary Accession: | Q9HCC0,Q96C27, Q9Y4L7, A6NIY9, |
UniProt Related Accession: | Q9HCC0 |
Molecular Weight: | 57,519 Da |
NCBI Full Name: | Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial |
NCBI Synonym Full Names: | methylcrotonoyl-CoA carboxylase 2 |
NCBI Official Symbol: | MCCC2 |
NCBI Official Synonym Symbols: | MCCB |
NCBI Protein Information: | methylcrotonoyl-CoA carboxylase beta chain, mitochondrial |
UniProt Protein Name: | Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial |
UniProt Synonym Protein Names: | 3-methylcrotonyl-CoA carboxylase 2; 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta |
Protein Family: | Methylcrotonoyl-CoA carboxylase |
UniProt Gene Name: | MCCC2 |
UniProt Entry Name: | MCCB_HUMAN |