ODAPH

Chr 4

odontogenesis associated phosphoprotein

Also known as: AI2A4, C4orf26

NCBI Gene: 152816 ENSG00000174792 UniProt: Q17RF5

ODAPH encodes an extracellular matrix acidic phosphoprotein that promotes nucleation of hydroxyapatite during enamel mineralization. Mutations cause autosomal recessive amelogenesis imperfecta type IIA4, characterized by hypomineralized tooth enamel. The gene shows low constraint to loss-of-function variants (pLI 0.05, LOEUF 1.67), consistent with its recessive inheritance pattern and primary effect on dental development rather than essential cellular functions.

ResearchSummary from RefSeq, OMIM, UniProt

Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAmelogenesis imperfecta, hypomaturation type, 2A4

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.67

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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