TUFT1

Chr 1AR

tuftelin 1

Also known as: WHSF

NCBI Gene: 7286ENSG00000143367UniProt: Q9NNX1OMIM: 600087

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Woolly hair-skin fragility syndromeMIM #620415
AR
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
—
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TUFT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients