HGSNAT, Polyclonal Antibody

DKFZp686G24175; FLJ22242; FLJ32731; HGNAT; MPS3C; TMEM76

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Antigen affinity purification

Store at -20 degree C. Avoid freeze / thaw cycles

Manufactured in an ISO 9001:2015 Certified Laboratory.

Small volumes of anti-HGSNAT antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

ELISA (EIA), Immunohistochemistry (IHC), Western Blot (WB)

WB: 1:200-1:2000
IHC: 1:20-1:200

70,496 Da

heparan-alpha-glucosaminide N-acetyltransferase

heparan-alpha-glucosaminide N-acetyltransferase; transmembrane protein 76

Heparan-alpha-glucosaminide N-acetyltransferase

TMEM76  [Similar Products]

HGNAT_HUMAN

This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]

HGSNAT: Lysosomal acetyltransferase that acetylates the non- reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. Defects in HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C); also known as Sanfilippo C syndrome. MPS3C 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. 2 isoforms of the human protein are produced by alternative initiation.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Glycan Metabolism - glycosaminoglycan degradation; Acetyltransferase; EC 2.3.1.78

Chromosomal Location of Human Ortholog: 8p11.1

Cellular Component: lysosomal membrane; integral to membrane

Molecular Function: heparan-alpha-glucosaminide N-acetyltransferase activity; transferase activity, transferring acyl groups

Biological Process: lysosomal transport; glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; pathogenesis; protein oligomerization

Disease: Mucopolysaccharidosis, Type Iiic

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