Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

doi:10.1016/j.ajhg.2016.10.008

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

American journal of human genetics - 1 Dec 2016

Arno Gavin, Agrawal Smriti A, Eblimit Aiden, Bellingham James, Xu Mingchu, Wang Feng, Chakarova Christina, Parfitt David A, Lane Amelia, Burgoyne Thomas, Hull Sarah, Carss Keren J, Fiorentino Alessia, Hayes Matthew J, Munro Peter M, Nicols Ralph, Pontikos Nikolas, Holder Graham E, Asomugha Chinwe, Raymond F Lucy, Moore Anthony T, Plagnol Vincent, Michaelides Michel, Hardcastle Alison J, Li Yumei, Cukras Catherine, Webster Andrew R, Cheetham Michael E, Chen Rui

Abstract excerpt

Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode proteins involved in a wide range of functional pathways, including photoreceptor development, phototransduction, the retinoid cycle, cilia, and outer segment development. Here we report the identification of biallelic mutations in Receptor Expression Enhancer...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Induced Pluripotent Stem Cells

Share to Membrane Proteins

Share to Membrane Transport Proteins

Share to Mutation, Missense

Share to Photoreceptor Cells, Vertebrate

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 27889058
DOI: 10.1016/j.ajhg.2016.10.008
PMCID: PMC5142109

Genes

REEP6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.PMID 27889058Read ↗

REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein traffickingSemantic proximity Read ↗

REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.Semantic proximity Read ↗

REEP6 deficiency impairs ER and Golgi morphologies and causes retinal degeneration by attenuating the expression of phototransduction proteinsSemantic proximity Read ↗

Update on the molecular genetics of retinitis pigmentosa.Semantic proximity Read ↗

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.Semantic proximity Read ↗

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.Semantic proximity Read ↗

Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.Semantic proximity Read ↗

Transcript isoforms of Reep6 have distinct functions in the retina.Semantic proximity Read ↗

Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variationSemantic proximity Read ↗

Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.Semantic proximity Read ↗

Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with <i>RHO</i> copy number variationSemantic proximity Read ↗

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.