DENND5B

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 DENND5B 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

DENN domain containing 5B

Location

Chromosome 12 (12p11.21)

Function

The DENND5B gene functions as an activator for RAB39 by promoting the release of GDP and binding of GTP. RAB39 is a RAB GTPase that controls membrane trafficking events (Yoshimura et al., 2010).

Database Links

GeneCards: DENND5B

NCBI Gene: 160518

OMIM: 617279

UniProtKB/Swiss-Prot: Q6ZUT9

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 DENND5B

Inheritance Pattern Unknown

Position (hg19) chr12:g.31568306G>T

Transcript NM_144973.3

DNA Change c.2547C>A

Protein Change p.Asp849Glu

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!