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Article

Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis.

Experimental eye research - 1 Sept 2006

Xi Quansheng, Pauer Gayle J T, Traboulsi Elias I, Hagstrom Stephanie A

Abstract excerpt

TUB is the first identified member of the TULP family of four proteins with unknown function. A spontaneous mutation in murine tub causes retinal degeneration, obesity, and deafness. Mutations in another member of the TULP family, TULP1, are a cause of autosomal recessive retinitis pigmentosa (RP). These findings prompted us to investigate TUB as a candidate gene for RP and Leber congenital amaurosis (LCA). A...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

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Share to Mutation, Missense

Share to Optic Atrophy, Hereditary, Leber

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Source

Open in PubMed Open full text

Identifiers

PMID: 16643894
DOI: 10.1016/j.exer.2006.02.003
PMCID: PMC3023989

Genes

TUB
TULP1

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.

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Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis.PMID 16643894Read ↗

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A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.Semantic proximity Read ↗

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