SLC16A8

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.

A change in the SLC16A8 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 16 member 8

Location
Chromosome 22 (22q13.1)


Function

The SLC16A8 gene is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999).

Database Links

GeneCards: GC22M041917

NCBI Gene: 23539

OMIM: 610409

UniProtKB/Swiss-Prot: O95907

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 SLC16A8
Inheritance Pattern Unknown
Position Chr22: 38474621
Transcript NM_013356
DNA Change c.1289C>T
Protein Change p.A430V
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