Donate

DAGLA

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 DAGLA gene was identified in a male, age 6, with global developmental delay, problems with coordination (ataxia) and repetitive, uncontrolled eye movements (downbeat nystagmus) (read full description). 

Date of Report

Aug 06, 2020

Full Name

diacylglycerol lipase alpha

Location
Chromosome 11 (11q12.2)
dagla_location.png

Function

DAGLA codes for a diacylglycerol whose role is to synthesize the endocannabinoid 2-arachidonoyl-glycerol. This enzyme plays a role in axonal growth during development and synaptic signaling (Bisogno et al., 2003).

Database Links

GeneCards: DAGLA

NCBI Gene: 747

OMIM: 614015

UniProtKB/Swiss-Prot: Q9Y4D2

Clinical Significance

A de novo change in this gene was identified in a UDN participant.

Gene DAGLA
Inheritance Pattern Unknown
Position (hg19) chr11:g.61511288_61511289del
Transcript NM_006133.2
DNA Change c.2456_2457delAC
Protein Change p.His819ProfsTer5
Contact Us

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

Top