TUFT1 Chromosome 1
Tuftelin 1
Upload your DNA to see your personal genotypes for variants in TUFT1.
What This Gene Does
Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143367
Associated Conditions (1)
Woolly hair-skin fragility syndrome
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2526112427 | Health Risk | Pathogenic | Woolly hair-skin fragility syndrome, Woolly hair-skin fragility syndrome |
| RS932956802 | Health Risk | Pathogenic | Woolly hair-skin fragility syndrome, Woolly hair-skin fragility syndrome |