KMT2B

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 11 with childhood onset dystonia 28 (read full description).

Date of Report

Apr 05, 2018

Full Name

lysine methyltransferase 2B

Location
Chromosome 19 (19q13.12)
Chr19.36220881.png

Function

The gene encodes a protein that is involved in gene activation (Shao et al., 2014).

Database Links

GeneCards: GC19P036411

NCBI Gene: 9757

OMIM: 606834

UniProtKB/Swiss-Prot: Q9UMN6

Clinical Significance

A change in this gene was identified in a UDN participant with childhood onset dystonia. More information about KMT2B-related dystonia can be found here.

Gene KMT2B
Inheritance Pattern Autosomal dominant
Position Chr19: 36220881
Transcript NM_014727.2
DNA Change c.4931G>T
Protein Change p.Cys1644Phe
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