Rabbit anti-Human GALNS Polyclonal Antibody | anti-GALNS antibody

GALNS (N-acetylgalactosamine-6-sulfatase, Chondroitinsulfatase, Chondroitinase, Galactose-6-sulfate Sulfatase, N-acetylgalactosamine-6-sulfate Sulfatase, GalNAc6S Sulfatase) (PE)

Cat. Num. AAA6379284

• Gene Names: GALNS; GAS; MPS4A; GalN6S; GALNAC6S
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: GALNS; Polyclonal Antibody; GALNS (N-acetylgalactosamine-6-sulfatase; Chondroitinsulfatase; Chondroitinase; Galactose-6-sulfate Sulfatase; N-acetylgalactosamine-6-sulfate Sulfatase; GalNAc6S Sulfatase) (PE); anti-GALNS antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human GALNS.
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with R-Phycoerythrin (PE).

• Applicable Applications for anti-GALNS antibody: Western Blot (WB)
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: Full length human GALNS, aa1-522 (NP_000503.1).
• Immunogen Sequence: MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGDLGVYGEPSRETPNLDRMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQARHHPFFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQGGSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSDRAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCPGQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFASAEYQEALSRITSVVQQHQEALVPAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH
• Conjugate: PE
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: PE conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(GALNS rabbit polyclonal antibody. Western Blot analysis of GALNS expression in human pancreas.)

Western Blot (WB)

(Western Blot analysis of GALNS expression in transfected 293T cell line by GALNS polyclonal antibody. Lane 1: GALNS transfected lysate (58kD). Lane 2: Non-transfected lysate.)

Related Product Information for anti-GALNS antibody

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.

Product Categories/Family for anti-GALNS antibody

Antibodies; Enzymes

NCBI and Uniprot Product Information

• NCBI GI #: 4503899
• NCBI GeneID: 2588
• NCBI Accession #: NP_000503.1
• NCBI GenBank Nucleotide #: NM_000512.3
• UniProt Accession #: P34059; Q86VK3
• Molecular Weight: 58,026 Da
• NCBI Official Full Name: N-acetylgalactosamine-6-sulfatase
• 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: Hydrolase; EC 3.1.6.4; Glycan Metabolism - glycosaminoglycan degradation

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: carbohydrate metabolic process; glycosaminoglycan metabolic process; keratan sulfate catabolic process; keratan sulfate metabolic process

Disease: Mucopolysaccharidosis, Type Iva