MYCBP2

On this page, you will find information about a genetic change that was identified in a UDN participant. 

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 12 with developmental regression, absent speech, seizures, and distinct facial features (read full description).

Date of Report

Mar 03, 2020

Full Name

MYC binding protein 2

Location
Chromosome 13 (13q22.3)


Function

MYCBP2 encodes a protein that is an E3 ligase and is involved in the regulation of the nervous system and axon degeneration (Pao, et al. 2018).

Database Links

GeneCards: GC13M077044

NCBI Gene: 23077

OMIM: 610392

UniProtKB/Swiss-Prot: O75592

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 MYCBP2
Inheritance Pattern Autosomal dominant
Position Ch13: 77699483
Transcript NM_015057.5
DNA Change c.8005C>T
Protein Change p.R2669X
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