GALNS Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	ICC/IF, WB
Recommend Dilution	WB 1:500 - 1:2000
Reactivity	Human, Mouse, Rat
Host	Rabbit
Clonality	Polyclonal
Immunogen	Recombinant protein of human GALNS
Formulation	Store at -20°C (regular) and -80°C (long term). Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Concentration	lot specific
Purification	Affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C as received.
Predicted Protein Size	522
Gene Name	galactosamine (N-acetyl)-6-sulfatase
Database Link	NP_000503 Entrez Gene 50917 MouseEntrez Gene 292073 RatEntrez Gene 2588 Human UniProt ID P34059
Background	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.
Synonyms	GalN6S; GALNAC6S; GAS; MPS4A
Reference Data
Protein Families	Druggable Genome
Protein Pathways	Glycosaminoglycan degradation, Lysosome, Metabolic pathways

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