Gene: PRPF31

Alternate names for this Gene: NY-BR-99|PRP31|RP11|SNRNP61

Gene Summary: This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.42

Description of this Gene: pre-mRNA processing factor 31

Type of Gene: protein-coding

rs254271 in PRPF31 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29650774 2018 Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes.

rs869312187 in PRPF31 gene and Retinal Dystrophies PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.