TICAM1

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 heterozygous change in the TICAM1 gene was identified in a UDN participant with early-onset rapidly progressive dementia

Date of Report

Feb 26, 2024

Full Name

TIR domain containing adaptor molecule 1

Location

Chromosome 19p13.3

Function

The TICAM1 gene encodes a crucial protein that assists the immune system in combating pathogens (Lu & Sun, 2022). It collaborates with toll-like receptor 3 (TLR3) to initiate a defensive response against viruses, triggering the production of interferon-beta. Mutations in this gene have been found to be associated with infection-induced acute encephalopathy (RefSeq, 2020).

Database Links

GeneCards: TICAM1

NCBI Gene: 148022

OMIM: 607601

UniProtKB/Swiss-Prot: Q8IUC6

Clinical Significance

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

Gene TICAM1

Inheritance Pattern Unknown

Position (hg19) Chr19: g.4817210A>G

Transcript NM_182919.4

DNA Change c.1180T>C

Protein Change p. Phe394Leu

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