BTD Antibody, FITC conjugated (PACO57678)
- SKU:
- PACO57678
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- FITC
Frequently bought together:
Description
抗体名: | BTD Antibody, FITC conjugated (PACO57678) |
抗体コード: | PACO57678 |
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 Biotinidase protein (322-397AA) |
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: | FITC |
バックグラウンド: | Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation. |
シノニム: | Biotinidase (Biotinase) (EC 3.5.1.12), BTD |
UniProt Protein Function: | BTD: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation. Defects in BTD are the cause of biotinidase deficiency (BTD deficiency); also called late-onset multiple carboxylase deficiency. BTD deficiency is a juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. BTD deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. Belongs to the CN hydrolase family. BTD/VNN subfamily. |
UniProt Protein Details: | Protein type:EC 3.5.1.12; Ligase; Secreted, signal peptide; Cofactor and Vitamin Metabolism - biotin; Hydrolase; Secreted Chromosomal Location of Human Ortholog: 3p25 Cellular Component: extracellular space; mitochondrial matrix; apical part of cell; extracellular region; nucleolus; perikaryon Molecular Function:biotinidase activity; biotin carboxylase activity Biological Process: epidermis development; central nervous system development; vitamin metabolic process; biotin metabolic process; water-soluble vitamin metabolic process Disease: Biotinidase Deficiency |
NCBI Summary: | The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] |
UniProt Code: | P43251 |
NCBI GenInfo Identifier: | 226693503 |
NCBI Gene ID: | 686 |
NCBI Accession: | P43251.2 |
UniProt Secondary Accession: | P43251,Q96EM9, A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9 F8W1Q3, |
UniProt Related Accession: | P43251 |
Molecular Weight: | 543 |
NCBI Full Name: | Biotinidase |
NCBI Synonym Full Names: | biotinidase |
NCBI Official Symbol: | BTD |
NCBI Protein Information: | biotinidase; biotinase |
UniProt Protein Name: | Biotinidase |
Protein Family: | Biotinidase |
UniProt Gene Name: | BTD |
UniProt Entry Name: | BTD_HUMAN |