TMTC4 Chromosome 13
Transmembrane O-mannosyltransferase targeting cadherins 4
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What This Gene Does
This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Transmembrane O-mannosyltransferase targeting cadherins"
Locus Type
gene with protein product
Location
13q32.3
Ensembl
ENSG00000125247
Associated Conditions (2)
Hearing loss
autosomal recessive 122
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1364085211 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 122, Hearing loss |
| RS770073741 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 122, Hearing loss |