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Anti-Alpha-L-iduronidase Antibody (CAB9769)

SKU:
CAB9769
Product Type:
Antibody
Applications:
WB
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Cell Biology
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Description

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Antibody Name:Anti-Alpha-L-iduronidase Antibody
Antibody SKU:CAB9769
Antibody Size:20uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 354-653 of human IDUA (NP_000194.2).
Application:WB
Recommended Dilution:WB 1:500 - 1:1000
Reactivity:Human
Positive Samples:
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 354-653 of human IDUA (NP_000194.2).
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:SYHP HPFA QRTL TARF QVNN TRPP HVQL LRKP VLTA MGLL ALLD EEQL WAEV SQAG TVLD SNHT VGVL ASAH RPQG PADA WRAA VLIY ASDD TRAH PNRS VAVT LRLR GVPP GPGL VYVT RYLD NGLC SPDG EWRR LGRP VFPT AEQF RRMR AAED PVAA APRP LPAG GRLT LRPA LRLP SLLL VHVC ARPE KPPG QVTR LRAL PLTQ GQLV LVWS DEHV GSKC LWTY EIQF SQDG KAYT PVSR KPST FNLF VFSP DTGA VSGS YRVR ALDY WARP GPFS DPVP YLEV PVPR GPPS PGNP
Gene ID:3425
Uniprot:P35475
Cellular Location:Lysosome
Calculated MW:72kDa/73kDa
Observed MW:Refer to figures
Synonyms:IDUA, IDA, MPS1
Background:This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I).
UniProt Protein Function:IDUA: Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H); also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S); also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S); also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. Belongs to the glycosyl hydrolase 39 family.
UniProt Protein Details:

Protein type:EC 3.2.1.76; Hydrolase; Glycan Metabolism - glycosaminoglycan degradation

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: lysosomal lumen

Molecular Function:L-iduronidase activity; receptor binding

Biological Process: carbohydrate metabolic process; cell morphogenesis; chemical homeostasis; chondroitin sulfate catabolic process; chondroitin sulfate metabolic process; dermatan sulfate catabolic process; disaccharide metabolic process; glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; limb morphogenesis; lysosome organization and biogenesis; skeletal morphogenesis

Disease: Hurler Syndrome; Hurler-scheie Syndrome; Scheie Syndrome

NCBI Summary:This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
UniProt Code:P35475
NCBI GenInfo Identifier:110611239
NCBI Gene ID:3425
NCBI Accession:NP_000194.2
UniProt Secondary Accession:P35475,B3KWK6,
UniProt Related Accession:P35475
Molecular Weight:71.9 kDa
NCBI Full Name:alpha-L-iduronidase
NCBI Synonym Full Names:iduronidase, alpha-L-
NCBI Official Symbol:IDUA  
NCBI Official Synonym Symbols:IDA; MPS1  
NCBI Protein Information:alpha-L-iduronidase
UniProt Protein Name:Alpha-L-iduronidase
Protein Family:Alpha-L-iduronidase
UniProt Gene Name:IDUA  
UniProt Entry Name:IDUA_HUMAN

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