MRTFB

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 de novo heterozygous change in the MRTFB gene was identified in a UDN participant with autism, cognitive impairment, facial feature differences, and low muscle tone (read full description).

Date of Report

Jan 03, 2023

Full Name

Myocardin Related Transcription Factor B

Location

Chromosome 16p13.12

Function

This gene enables transcription co-activator activity. Additionally, this gene is involved in the positive regulation of transcription of RNA polymerase II, striated muscle tissue development, and miRNA transcription (Song et al., 2016).

Database Links

GeneCards: MRTFB

NCBI Gene: 57496

OMIM: 609463

UniProtKB/Swiss-Prot: Q9ULH7

Clinical Significance

A de novo heterozygous change in this gene was identified in a UDN participant.

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
MRTFB	Unknown	chr16:g.14306261G>C	NM_014048.4	c.271G>C	p.Ala91Pro

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