HGSNAT

On this page, you will find information about genetic changes that were identified in a UDN participant.  

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

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 (Genetics Home Reference).

Database Links

GeneCards: GC08P043140

Genetics Home Reference: HGSNAT

NCBI Gene: 138050

OMIM: 610453

UniProtKB/Swiss-Prot: Q68CP4

Clinical Significance

The following changes in the HGSNAT gene were identified in a UDN participant:

Gene HGSNAT
Inheritance Pattern Autosomal recessive
Position Chr8:43037317, Chr8:43047463
Transcript NM_152419
DNA Change c.1042G>A, c.1267G>T
Protein Change p.V348M, p.G423W
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