MKL2

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.

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A change in this gene was identified in a female, age 14, with severe intellectual disability, language delay (receptive and expressive language delay), and mild dysmorphic features (read full description).

Date of Report

Jul 08, 2019

Full Name

MKL/myocardin-like 2 gene (also known as myocardin transcription factor B)

Location

Chromosome 16 (16p13.12)

Function

The MKL2 gene codes for a protein involved in the activation of cardiac muscle promoters (Wang, et al., 2001)

Database Links

GeneCards: MKL2

NCBI Gene: 57496

OMIM: 609463

UniProtKB/Swiss-Prot: Q9ULH7

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 MKL2

Inheritance Pattern Autosomal dominant

Position (hg19) chr16:g.14307435C>G

Transcript NM_014048.3

DNA Change c.310C>G

Protein Change p.Arg104Gly

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