TTC1 Chromosome 5
Tetratricopeptide repeat domain 1
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What This Gene Does
This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
Tetratricopeptide repeat domain containing
Locus Type
gene with protein product
Location
5q33.3
Ensembl
ENSG00000113312
Associated Conditions (1)
Abnormal brain morphology
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060499752 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |