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.

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 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: GC16P014071

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 Chr16:14307435
Transcript NM_014048
DNA Change c.310C>G
Protein Change p.R104G
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