HGSNAT

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in this gene were identified in a male, age 40, with mucopolysaccharidosis type IIIC (Sanfilippo C) (read full description). 

Date of Report

Nov 27, 2017

Full Name

heparan-alpha-glucosaminide N-acetyltransferase

Location
Chromosome 8 (8p11.2-p11.1)
HGSNAT-ideogram.png

Function

The HGSNAT gene provides instructions to produce an enzyme (N-acetyltransferase) that is located in the lysosome, the part of the cell that helps to break down different types of molecules (MedlinePlus Genetics).

Database Links

GeneCards: GC08P043140

MedlinePlus Genetics: HGSNAT

NCBI Gene: 138050

OMIM: 610453

UniProtKB/Swiss-Prot: Q68CP4

Clinical Significance

Changes in this gene were identified in a UDN participant:

Gene HGSNAT
Inheritance Pattern Autosomal recessive
Position (hg19) chr8:g.43037317G>A & g.43047463G>T
Transcript NM_152419.2
DNA Change c.1042G>A & c.1267G>T
Protein Change p.Val348Met & p.Gly423Trp
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