SGSH (NM_000199) Human Recombinant Protein

Specifications

Product Data
Species	Human
Expression Host	HEK293
Expression cDNA Clone or AA Sequence	Protein Sequence (showhide) Arg21-Leu502
Tag	C-His
Predicted MW	55.72 kDa
Purity	>95% as determined by SDS-PAGE and Coomassie blue staining
Buffer	Provided lyophilized from a 0.2 μm filtered solution of 20 mM Tris-HCl, 150 mM NaCl
Storage	Store at -80°C.
Stability	Stable for at least 3 months from date of receipt under proper storage and handling conditions.
Endotoxin	Endotoxin level is < 0.1 ng/µg of protein (< 1 EU/µg)
Reference Data
RefSeq	NP_000190
Locus ID	6448
UniProt ID	P51688
Refseq Size	2770
Cytogenetics	17q25.3
Refseq ORF	1506
Synonyms	HSS; MPS3A; SFMD
Summary	This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
Protein Families	Druggable Genome
Protein Pathways	Glycosaminoglycan degradation, Lysosome, Metabolic pathways

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