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: GC0XM011137

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 ChrX:11682726
Transcript NM_013427
DNA Change c.223C>T
Protein Change p.L75F
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