ARHGEF17

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.

Changes in this gene were identified in a female, age 2, with absent thyroid and inflammatory disease of the muscle (polymyositis) (read full description).

Date of Report

Apr 25, 2016

Full Name

Rho guanine nucleotide exchange factor 17

Location

Chromosome 11 (11q13.4)

Function

The ARHGEF17 gene codes for a guanine nucleotide exchange factor for RhoA GTPases (Rümenapp et al., 2002 ).

Database Links

GeneCards: ARHGEF17

NCBI Gene: 9828

UniProtKB/Swiss-Prot: Q96PE2

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 ARHGEF17

Inheritance Pattern Autosomal recessive

Position (hg19) chr11:g.73078743G>A

Transcript NM_014786.3

DNA Change c.6110G>A

Protein Change p.Arg2037Gln

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