ALG2

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 this gene was identified in a male, age 7, with global developmental delay, muscle weakness, hand tremor, increased tone in lower limbs (hypertonia), and facial differences (read full description). 

Date of Report

Apr 08, 2021

Full Name

alpha-1,3/1,6-mannosyltransferase

Location
Chromosome 9 (9q22.33)
alg2.png

Function

The ALG2 gene codes for alpha-1,3-mannosyltransferase, which is involved in the N-linked glycosylation pathway and have been associated with myasthenic syndromes (Cossins et al., 2013).

Database Links

GeneCards: GC09M099216

NCBI Gene: 85365

OMIM: 607905

UniProtKB/Swiss-Prot: Q9H553

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 ALG2
Inheritance Pattern Unknown
Position chr9: g.101980764C>T
Transcript NM_033087.3
DNA Change c.703G>A
Protein Change p.Glu235Lys
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