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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.
Changes in the MCOLN2 gene were identified in a UDN participant with seizures, developmental regression, and abnormal muscle tone.
Nov 13, 2023
Mucolipin TRP cation channel 2
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).
Heterozygous changes in this gene were identified in a UDN participant.
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