SLC33A1

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 SLC33A1 gene was identified in a female, age 32 with rapid, unexplained bilateral vocal cord spasms and muscle weakness (read full description).

Date of Report

Dec 03, 2018

Full Name

solute carrier family 33 member 1

Location
Chromosome 3 (3q25.31)


Function

The SLC33A1 gene codes for a protein that is needed to form O-acetylated gangliosides (Kanamori et al., 1997).

Database Links

GeneCards: GC03M155821

Genetics Home Reference: SLC33A1

NCBI Gene: 9197

OMIM: 603690

UniProtKB/Swiss-Prot: O00400

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene SLC33A1
Inheritance Pattern Unknown
Position Chr3: 155546007
Transcript NM_004733
DNA Change c.1642A>G
Protein Change p.N548D
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