SGSH

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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A change in the SGSH gene was identified in a UDN participant with autism, delayed speech and development, gap between larynx and esophagus (laryngeal cleft), and low muscle tone (hypotonia)

Date of Report

Dec 01, 2023

Full Name

N-Sulfoglucosamine Sulfohydrolase

Location

Chromosome 17q25.3

Function

This gene codes for a protein that catalyzes the degradation of lysosomal heparan sulfate (Muschol et al., 2004).

Database Links

GeneCards: SGSH

MedlinePlus Genetics: SGSH

NCBI Gene: 6448

OMIM: 605270

UniProtKB/Swiss-Prot: P51688

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant.

Gene SGSH

Inheritance Pattern Unknown

Position (hg19) chr17: g.78190883G>C

Transcript NM_000199.5

DNA Change c.197C>G

Protein Change p.Ser66Trp

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