FAM83H

Chr 8

scaffolding CK1 anchoring protein H

Also known as: AI3, AI3A, FAM83H

NCBI Gene: 286077 ENSG00000180921 UniProt: Q6ZRV2

The protein encoded by this gene plays a major role in the structural organization and calcification of developing tooth enamel and may regulate epithelial cell migration through keratin cytoskeleton disassembly. Mutations cause amelogenesis imperfecta type IIIA, a dental disorder affecting enamel formation, with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.89, LOEUF 0.36), indicating intolerance to protein disruption.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAmelogenesis imperfecta 3A

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.36

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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