POU4F1

Chr 13AD

POU class 4 homeobox 1

Also known as: ATITHS, BRN3A, Oct-T1, RDC-1, brn-3A

NCBI Gene: 5457 ENSG00000152192 UniProt: Q01851 OMIM: 601632

This gene encodes a neural transcription factor that regulates gene expression involved in neuronal differentiation, survival, and process outgrowth, with major developmental effects in somatosensory neurons and brainstem motor control nuclei. Mutations cause autosomal dominant sensorineural hearing loss (DFNA15), typically presenting in adulthood with progressive hearing impairment. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant clinical consequences.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ataxia, intention tremor, and hypotonia syndrome, childhood-onsetMIM #619352

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.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

0.42

LOEUF

LOF

Mechanism· G2P