Gene: ESRP1

Alternate names for this Gene: DFNB109|RBM35A|RMB35A

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

Gene is located in Chromosome: 8

Location in Chromosome : 8q22.1

Description of this Gene: epithelial splicing regulatory protein 1

Type of Gene: protein-coding

rs1554577402 in ESRP1 gene and DEAFNESS, AUTOSOMAL RECESSIVE 109 PMID 29107558 2017 ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.

rs10956924 in ESRP1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.