Gene: RAPH1

Alternate names for this Gene: ALS2CR18|ALS2CR9|LPD|PREL-2|PREL2|RMO1|RalGDS/AF-6

Gene Summary: This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q33.2

Description of this Gene: Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

Type of Gene: protein-coding

rs62182810 in RAPH1 gene and Degenerative polyarthritis PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs11679740 in RAPH1 gene and Pseudocholinesterase Measurement PMID 21862451 2011 GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.