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.

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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)

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: HGSNAT

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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