GENETIC ENCYCLOPEDIA
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gene: TULP1

id7287
symbolTULP1
organismHomo sapiens
full nameTUB like protein 1
summaryThis gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]
variant-disease

NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) AND Retinitis pigmentosa 14

NM_003322.6(TULP1):c.718+2T>C AND Retinitis pigmentosa 14

NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter) AND Leber congenital amaurosis 15

NM_003322.6(TULP1):c.539G>A (p.Arg180His) AND not provided

NM_003322.6(TULP1):c.1362G>A (p.Thr454=) AND not provided

... 127 more


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