HGSNAT wt Allele

Preferred Label : HGSNAT wt Allele;

NCIt synonyms : FLJ32731; Transmembrane Protein 76 Gene; RP73; Heparan-Alpha-Glucosaminide N-Acetyltransferase wt Allele; MPS3C; TMEM76; HGNAT;

NCIt definition : Human HGSNAT wild-type allele is located within 8p11.21-p11.1 and is approximately 62 kb in length. This allele, which encodes heparan-alpha-glucosaminide N-acetyltransferase protein, plays a role in the lysosomal processing and degradation of heparan sulfate. Loss of function mutations in the gene are associated with mucopolysaccharidosis IIIC (Sanfilippo syndrome C).;

GenBank Accession Number : NM_152419;

Details

Origin ID

C218455;

OMIM relation
- Heparan-alpha-glucosaminide n-acetyltransferase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Glycosaminoglycan Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]
- Intracellular Transport [NCIt concept]
- Protein Metabolism Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients