ARX

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

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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: ARX

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 (hg19) chrX:g.25030138_ 25033532del

Transcript NM_139058.2

DNA Change c.196+129_1073 +903del

Protein Change N/A

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