ESRP1

Chr 8

epithelial splicing regulatory protein 1

Also known as: DFNB109, RBM35A, RMB35A

NCBI Gene: 54845 ENSG00000104413 UniProt: Q6NXG1

ESRP1 encodes an mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms and controls splicing of genes involved in inner ear development and auditory hair cell differentiation. Mutations cause autosomal recessive deafness (DFNB109). The gene is highly constrained against loss-of-function variants, suggesting that complete loss of function is likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal recessive, 109

Clinical highlights

Gene-disease validity (ClinGen)

nonsyndromic genetic hearing loss · ARLimitednot for standalone diagnostic reporting

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

0.24

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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