ARX

On this page, you will find information about a genetic change that was identified in a UDN participant.

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 1 with brain abnormalities (agenesis of the corpus callosum and arachnoid cyst) and chronic diarrhea (read full description).

Date of Report

Aug 14, 2019

Full Name

aristaless related homeobox

Location

Chromosome X (Xp21.3)

Function

The ARX gene is part of a family of homeobox genes that are important in early embryonic development. In particular, the ARX gene codes for a protein that acts as a transcription factor and is important in the development of the brain, pancreas, and testes. (Gécz et al., 2006).

Database Links

GeneCards: GC0XM025021

MedlinePlus Genetics: ARX

NCBI Gene: 170302

OMIM: 300382

UniProtKB/Swiss-Prot: Q96QS3

Clinical Significance

A change in this gene was identified in a UDN participant and other individuals with similar symptoms (Gécz et al., 2006).

Gene ARX

Inheritance Pattern X-linked

Position Chr19:25030136-25033530

Transcript NM_139058.2

DNA Change c.196+129_1073 +903del

Protein Change N/A

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