ARHGAP6

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 ARHGAP6 gene was identified in a male, age 13 with intellectual disability, absent speech, seizures, abnormality of brain white matter (periventricular leukomalacia), and excess curvature of the spine (kyphosis, scoliosis) (read full description).

Date of Report

Feb 21, 2019

Full Name

Rho GTP-ase activating protein 6

Location

Chromosome X (Xp22.2)

Function

The ARHGAP6 gene codes for a protein important in the formation of actin filaments. This protein also functions as a GTP-ase activating protein (Prakash et al., 2000).

Database Links

GeneCards: ARHGAP6

NCBI Gene: 395

OMIM: 300118

UniProtKB/Swiss-Prot: O43182

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 ARHGAP6

Inheritance Pattern X-linked

Position (hg19) chrX:g.11682726G>A

Transcript NM_013427.2

DNA Change c.223C>T

Protein Change p.Leu75Phe

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