Name: Anti-GNS Antibody (CAB7489)
Brand: Cell Biology Antibodies 11
SKU: CAB7489
Availability: OutOfStock

Antibody Name:	Anti-GNS Antibody
Antibody SKU:	CAB7489
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 293-552 of human GNS (NP_002067.1).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human, Mouse, Rat
Positive Samples:	BT-474, NCI-H460, 293T, SKOV3, HeLa, Mouse liver, Mouse kidney, Mouse spleen, Rat brain

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 293-552 of human GNS (NP_002067.1).
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:	WQTL LSVD DLVE KLVK RLEF TGEL NNTY IFYT SDNG YHTG QFSL PIDK RQLY EFDI KVPL LVRG PGIK PNQT SKML VANI DLGP TILD IAGY DLNK TQMD GMSL LPIL RGAS NLTW RSDV LVEY QGEG RNVT DPTC PSLS PGVS QCFP DCVC EDAY NNTY ACVR TMSA LWNL QYCE FDDQ EVFV EVYN LTAD PDQI TNIA KTID PELL GKMN YRLM MLQS CSGP TCRT PGVF DPGY RFDP RLMF SNRG SVRT RRFS KHLL
Gene ID:	2799
Uniprot:	P15586
Cellular Location:	Lysosome
Calculated MW:	59kDa/62kDa
Observed MW:	62kDa

Synonyms:

GNS, G6S

Background:

The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.

UniProt Protein Function:	GNS: Defects in GNS are the cause of mucopolysaccharidosis type 3D (MPS3D); also known as Sanfilippo D syndrome. MPS3D is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Belongs to the sulfatase family.
UniProt Protein Details:	Protein type:EC 3.1.6.14; Hydrolase; Glycan Metabolism - glycosaminoglycan degradation Chromosomal Location of Human Ortholog: 12q14 Cellular Component: lysosomal lumen Molecular Function:protein binding; N-acetylglucosamine-6-sulfatase activity; sulfuric ester hydrolase activity; metal ion binding Biological Process: keratan sulfate metabolic process; glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; pathogenesis; keratan sulfate catabolic process Disease: Mucopolysaccharidosis, Type Iiid
NCBI Summary:	The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
UniProt Code:	P15586
NCBI GenInfo Identifier:	232126
NCBI Gene ID:	2799
NCBI Accession:	P15586.3
UniProt Related Accession:	P15586
Molecular Weight:
NCBI Full Name:	N-acetylglucosamine-6-sulfatase
NCBI Synonym Full Names:	glucosamine (N-acetyl)-6-sulfatase
NCBI Official Symbol:	GNS
NCBI Official Synonym Symbols:	G6S
NCBI Protein Information:	N-acetylglucosamine-6-sulfatase
UniProt Protein Name:	N-acetylglucosamine-6-sulfatase
UniProt Synonym Protein Names:	Glucosamine-6-sulfatase; G6S
Protein Family:	Protein
UniProt Gene Name:	GNS
UniProt Entry Name:	GNS_HUMAN

Western blot analysis of extracts of various cell lines, using GNS antibody (CAB7489) 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: 30s.

Antibodies

GNS Antibody (PACO09530)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)