SLC25A24

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.

Date of Report

May 29, 2018

Full Name

solute carrier family 25 member 24

Location
Chromosome 1 (1p13.3)


Function

The SLC25A24 gene codes a protein involved in energy transport across the mitochondrial membrane (Del Arco and Satrustegui, 2004).

Database Links

GeneCards: GC01M108134

Genetics Home Reference: SLC25A24

NCBI Gene: 29957 

OMIM: 608744

UniProtKB/Swiss-Prot: Q6NUK1

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 SLC25A24
Inheritance Pattern Autosomal dominant (paternally inherited)
Position Chr1: 108724581
Transcript NM_013386
DNA Change c.380C>A
Protein Change p.A127E
Contact Us

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