Rabbit GALNS Polyclonal Antibody | anti-GALNS antibody

GALNS Rabbit Polyclonal

Cat. Num. AAA769554

• Gene Names: GALNS; GAS; MPS4A; GalN6S; GALNAC6S
• Reactivity: Human, Mouse, Rat
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Synonyms: GALNS; Polyclonal Antibody; GALNS Rabbit Polyclonal; anti-GALNS antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 238

• Applicable Applications for anti-GALNS antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
• Immunogen: Galactosamine (N-acetyl)-6-sulfate sulfatase
• Preparation and Storage: PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human kidney using MBS769554 (GALNS antibody) at dilution of 1:50)

Western Blot (WB)

(human liver tissue were subjected to SDS PAGE followed by western blot with MBS769554 (GALNS antibody) at dilution of 1:400)

NCBI and Uniprot Product Information

• NCBI GI #: 39645009
• NCBI GeneID: 2588
• Molecular Weight: 58,026 Da
• NCBI Official Full Name: GALNS protein, partial
• NCBI Official Synonym Full Names: galactosamine (N-acetyl)-6-sulfatase
• NCBI Official Symbol: GALNS
• NCBI Official Synonym Symbols: GAS; MPS4A; GalN6S; GALNAC6S
• NCBI Protein Information: N-acetylgalactosamine-6-sulfatase
• UniProt Protein Name: N-acetylgalactosamine-6-sulfatase
• Protein Family: N-acetylgalactosamine-6-sulfatase
• UniProt Gene Name: GALNS
• UniProt Synonym Gene Names: Chondroitinase; GalN6S; GalNAc6S sulfatase
• UniProt Entry Name: GALNS_HUMAN

NCBI Description

This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]

Uniprot Description

GALNS: Defects in GALNS are the cause of mucopolysaccharidosis type 4A (MPS4A); also known as Morquio A syndrome. MPS4A is a form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. Belongs to the sulfatase family.

Protein type: EC 3.1.6.4; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase

Chromosomal Location of Human Ortholog: 16q24.3

Cellular Component: lysosomal lumen

Molecular Function: metal ion binding; N-acetylgalactosamine-4-sulfatase activity; N-acetylgalactosamine-6-sulfatase activity; sulfuric ester hydrolase activity

Biological Process: keratan sulfate catabolic process

Disease: Mucopolysaccharidosis, Type Iva