MYCBP2

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

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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: MYCBP2

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	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
MYCBP2	Autosomal dominant	chr13:g.77699483G>A	NM_015057.4	c.8005C>T	p.Arg2669Ter

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