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Anti-ASAH1 Antibody (CAB13948)

SKU:
CAB13948
Product Type:
Antibody
Reactivity:
Human
Mouse
Rat
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Metabolism
€139 - €419
Frequently bought together:

Description

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Antibody Name:Anti-ASAH1 Antibody
Antibody SKU:CAB13948
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 140-389 of human ASAH1 (NP_001120977.1).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse, Rat
Positive Samples:SKOV3, Rat heart
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 140-389 of human ASAH1 (NP_001120977.1).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:IVAE DKKG HLIH GRNM DFGV FLGW NINN DTWV ITEQ LKPL TVNL DFQR NNKT VFKA SSFA GYVG MLTG FKPG LFSL TLNE RFSI NGGY LGIL EWIL GKKD VMWI GFLT RTVL ENST SYEE AKNL LTKT KILA PAYF ILGG NQSG EGCV ITRD RKES LDVY ELDA KQGR WYVV QTNY DRWK HPFF LDDR RTPA KMCL NRTS QENI SFET MYDV LSTK PVLN KLTV YTTL IDVT KGQF ETYL RDCP DPCI GW
Gene ID:427
Uniprot:Q13510
Cellular Location:Lysosome
Calculated MW:44kDa/46kDa
Observed MW:45kDa
Synonyms:ASAH1, AC, ACDase, ASAH, PHP, PHP32, SMAPME
Background:This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy.
UniProt Protein Function:ASAH1: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Defects in ASAH1 are the cause of Farber lipogranulomatosis (FL); also known as Farber disease (FD). This sphingolipid disease is characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, marked accumulation of ceramide in lysosomes, and death by three years of age. Defects in ASAH1 are the cause of spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME). An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency. Belongs to the acid ceramidase family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Lipid Metabolism - sphingolipid; EC 3.5.1.23; Hydrolase

Chromosomal Location of Human Ortholog: 8p22

Cellular Component: lysosomal lumen

Molecular Function:catalytic activity; ceramidase activity

Biological Process: response to organic substance; sphingolipid metabolic process; glycosphingolipid metabolic process; ceramide metabolic process; lung development

Disease: Farber Lipogranulomatosis

NCBI Summary:This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
UniProt Code:Q13510
NCBI GenInfo Identifier:239938949
NCBI Gene ID:427
NCBI Accession:Q13510.5
UniProt Secondary Accession:Q13510,Q6W898, Q96AS2, E9PDS0,
UniProt Related Accession:Q13510
Molecular Weight:395
NCBI Full Name:Acid ceramidase
NCBI Synonym Full Names:N-acylsphingosine amidohydrolase (acid ceramidase) 1
NCBI Official Symbol:ASAH1  
NCBI Official Synonym Symbols:AC; PHP; ASAH; PHP32; ACDase; SMAPME  
NCBI Protein Information:acid ceramidase; acid CDase; acylsphingosine deacylase; putative 32 kDa heart protein
UniProt Protein Name:Acid ceramidase
UniProt Synonym Protein Names:Acylsphingosine deacylase; N-acylsphingosine amidohydrolase; Putative 32 kDa heart protein; PHP32
Protein Family:Acid ceramidase
UniProt Gene Name:ASAH1  
UniProt Entry Name:ASAH1_HUMAN
Anti-ASAH1 Antibody (CAB13948)Western blot analysis of extracts of various cell lines, using ASAH1 antibody (CAB13948) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.

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