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: GC12M031393

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 Chr12:31568306
Transcript NM_144973
DNA Change c.2547C>A
Protein Change p.D849E
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