Gene: PRPF6

Alternate names for this Gene: ANT-1|ANT1|C20orf14|Prp6|RP60|SNRNP102|TOM|U5-102K|hPrp6

Gene Summary: The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.33

Description of this Gene: pre-mRNA processing factor 6

Type of Gene: protein-coding

rs2427590 in PRPF6 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs387907100 in PRPF6 gene and RETINITIS PIGMENTOSA 60 PMID 21549338 2011 A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.