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- Table of Contents
Facts about Heparan-alpha-glucosaminide N-acetyltransferase.
Mouse | |
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Gene Name: | Hgsnat |
Uniprot: | Q3UDW8 |
Entrez: | 52120 |
Belongs to: |
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No superfamily |
heparan-alpha-glucosaminide N-acetyltransferase
Mass (kDA):
72.504 kDA
Mouse | |
---|---|
Location: | 8 A2|8 14.22 cM |
Sequence: | 8; |
Expressed in the retina.
PMID: 16960811 by Fan X., et al. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).
PMID: 25859010 by Haer-Wigman L., et al. Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N- acetyltransferase (HGSNAT).