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.

A change in this gene was identified in a female, age 27, with a progeria-like syndrome (read full description).

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: SLC25A24

MedlinePlus Genetics: 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

Position (hg19) chr1:g.108724581G>T

Transcript NM_013386.4

DNA Change c.380C>A

Protein Change p.Ala127Glu

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