TMEM204

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 the TMEM204 gene was identified in a UDN participant with seizures, developmental regression, and abnormal muscle tone.

Date of Report

Nov 13, 2023

Full Name

Transmembrane protein 204

Location

Chromosome 16p13.3

Function

The TMEM204 gene (previously referred to as CLP24) codes for a protein involved in cell adhesion (Kearsey et al., 2004). Kearsey et al. (2004) showed that over expression of this protein causes decreased cell to cell adhesion. This study also showed that this protein was highly expressed in the lung, heart, kidney, and placental tissue (Kearsey et al., 2004).

Database Links

GeneCards: TMEM204

NCBI Gene: 79652

OMIM: 611002

UniProtKB/Swiss-Prot: Q9BSN7

Clinical Significance

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

Gene TMEM204

Inheritance Pattern Autosomal recessive

Position (hg19) chr16:g.1578797G>A

Transcript NM_001256541.2

DNA Change c.-343G>A

Protein Change N/A

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