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Article

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Human molecular genetics - 15 Sept 2012

Rose Anna M, Shah Amna Z, Waseem Naushin H, Chakarova Christina F, Alfano Giovanna, Coussa Razek G, Ajlan Radwan, Koenekoop Robert K, Bhattacharya Shomi S

Abstract excerpt

PRPF31, a gene located at chromosome 19q13.4, encodes the ubiquitous splicing factor PRPF31. The gene lies in a head-to-head arrangement with TFPT, a poorly characterized gene with a role in cellular apoptosis. Mutations in PRPF31 have been implicated in autosomal dominant retinitis pigmentosa (adRP), a frequent and important cause of blindness worldwide. Disease associated with PRPF31 mutations is unusual, in...

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Source

Identifiers

PMID: 22723017
DOI: 10.1093/hmg/dds242

Genes

PRPF31
TFPT
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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