ARSA Antibody (PACO04274)
- SKU:
- PACO04274
- 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
Description
抗体名: | ARSA Antibody |
抗体コード: | PACO04274 |
サイズ: | 50ug |
宿主種: | Rabbit |
申し込み: | ELISA, WB, IHC |
推奨される希釈: | WB:1:500-1:2000, IHC:1:100-1:300 |
反応性: | Human, Mouse, Rat |
免疫原: | synthesized peptide derived from the Internal region of human Arylsulfatase A. |
憲法: | Liquid |
ストレージバッファ: | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
精製方法: | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
シノニム: | ARSA; Arylsulfatase A; ASA; Cerebroside-sulfatase |
UniProt Protein Function: | ARSA: Hydrolyzes cerebroside sulfate. Defects in ARSA are a cause of leukodystrophy metachromatic (MLD). MLD is a disease due to a lysosomal storage defect. It is characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late- infantile, juvenile and adult. Arylsulfatase A activity is defective in multiple sulfatase deficiency (MSD). A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys- 69 that is not converted to 3-oxoalanine. Belongs to the sulfatase family. |
UniProt Protein Details: | Protein type:Hydrolase; Lipid Metabolism - sphingolipid; EC 3.1.6.8 Chromosomal Location of Human Ortholog: 22q13.33 Cellular Component: extracellular space; lysosomal lumen; extrinsic to external side of plasma membrane; lysosome; endoplasmic reticulum lumen; acrosome; integral to membrane; endosome Molecular Function:arylsulfatase activity; sulfuric ester hydrolase activity; calcium ion binding; cerebroside-sulfatase activity Biological Process: sphingolipid metabolic process; response to ethanol; central nervous system development; cellular protein metabolic process; binding of sperm to zona pellucida; response to estrogen stimulus; response to methylmercury; autophagy; glycosphingolipid metabolic process; post-translational protein modification; response to nutrient; response to pH Disease: Metachromatic Leukodystrophy |
NCBI Summary: | The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010] |
UniProt Code: | P15289 |
NCBI GenInfo Identifier: | 114221 |
NCBI Gene ID: | 410 |
NCBI Accession: | P15289.3 |
UniProt Secondary Accession: | P15289,Q6ICI5, Q96CJ0, B2RCA6, B7XD04, F8WCC8, |
UniProt Related Accession: | P15289 |
Molecular Weight: | 507 |
NCBI Full Name: | Arylsulfatase A |
NCBI Synonym Full Names: | arylsulfatase A |
NCBI Official Symbol: | ARSA |
NCBI Official Synonym Symbols: | MLD |
NCBI Protein Information: | arylsulfatase A; ASA; cerebroside-sulfatase |
UniProt Protein Name: | Arylsulfatase A |
UniProt Synonym Protein Names: | Cerebroside-sulfataseCleaved into the following 2 chains:Arylsulfatase A component B; Arylsulfatase A component C |
Protein Family: | Arylsulfatase |
UniProt Gene Name: | ARSA |
UniProt Entry Name: | ARSA_HUMAN |