TMEM63B

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 homozygous change in the TMEM63B gene was identified in a UDN participant with low oxygen level in the blood (chronic hypoxemia), lung disease that causes lung scarring (pulmonary fibrosis), respiratory failure, and delayed speech and language development.

Date of Report

Oct 16, 2023

Full Name

transmembrane protein 63B

Location

Chromosome 6p21.1

Function

TMEM63B encodes an osmolarity-activated cation channel (Zhao et al 2016), which is required for hearing (Du et al 2020). TMEM63B encodes a mechanically activated ion channel that helps with the flow of ion (Murthy et al 2018).

Database Links

GeneCards: TMEM63B

NCBI Gene: 55362

OMIM: 619952

UniProtKB/Swiss-Prot: Q5T3F8

Clinical Significance

A homozygous change in this gene was identified in a UDN participant.

Gene TMEM63B

Inheritance Pattern Autosomal recessive

Position (hg19) chr6:g.44115223C>T

Transcript NM_018426.1

DNA Change c.973C>T

Protein Change p.Arg325Ter

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