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.

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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)

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

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