FHDC1

Chr 4

FH2 domain containing 1

Also known as: INF1

NCBI Gene: 85462 ENSG00000137460 UniProt: Q9C0D6 OMIM: 620268

This gene encodes a microtubule-associated formin that regulates both actin and microtubule dynamics, induces microtubule stabilization, regulates Golgi ribbon formation, and is required for normal cilia assembly. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, involving the central nervous system with seizures and developmental delays. The gene is highly intolerant to loss-of-function variants (LOEUF 0.585), suggesting that complete loss of function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable actin binding activity and microtubule binding activity. Involved in Golgi ribbon formation; cilium assembly; and stress fiber assembly. Located in cilium and microtubule. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.58

LOEUF

Multiple*

Mechanism· predicted