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.

Date of Report

Apr 05, 2018

Full Name

lysine methyltransferase 2B

Location
Chromosome 19 (19q13.12)


Function

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

Database Links

GeneCards: GC19P036411

Genetics Home Reference: KMT2B

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.

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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