MCOLN2

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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Changes in the MCOLN2 gene were identified in a UDN participant with seizures, developmental regression, and abnormal muscle tone.

Date of Report

Nov 13, 2023

Full Name

Mucolipin TRP cation channel 2

Location

Chromosome 1p22.3

Function

The MCOLN2 gene codes for a channel protein, TRMPL2, that is a member of the transient receptor potential (TRP) superfamily of cation channels (OMIM). This family of channel proteins are highly homologous and help regulate the movement of positively charged ions in and out of cells (Lev et al. 2010). The exact role and impact of TRMPL2 has not yet been fully deduced, but it may play a role in the recycling of GPI-Aps through interaction with the Arf6-associated pathway (Karacsonyi et al. 2007). Of note, MCOLN1, another member of the TRP family, codes for the channel protein associated with Mucolipidosis IV (OMIM).

Database Links

GeneCards: MCOLN2

NCBI Gene: 255231

OMIM: 607399

UniProtKB/Swiss-Prot: Q8IZK6

Clinical Significance

Heterozygous changes in this gene were identified in a UDN participant.

Gene MCOLN2

Inheritance Pattern Autosomal recessive

Position (hg19) chr1:g.85418129C>T & g. 85391833T>C

Transcript NM_153259.2

DNA Change c.650G>A & c.*535A>G

Protein Change p.Arg271Gln & N/A

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