TULP1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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View/Edit Human

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.[1][2][3]

TULP1 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. TULP1 is a candidate gene for retinitis pigmentosa-14 (RP). Mutation in TULP1 is a rare cause of recessive RP and TULP1 plays an essential role in the physiology of photoreceptors.[3]

References

  1. North MA, Naggert JK, Yan Y, Noben-Trauth K, Nishina PM (May 1997). "Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases". Proc Natl Acad Sci U S A. 94 (7): 3128–33. doi:10.1073/pnas.94.7.3128. PMC 20333. PMID 9096357.
  2. Banerjee P, Lewis CA, Kleyn PW, Shugart YY, Ross BM, Penchaszadeh GK, Ott J, Jacobson SG, Gilliam TC, Knowles JA (Jun 1998). "Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3". Genomics. 48 (2): 171–7. doi:10.1006/geno.1997.5174. PMID 9521870.
  3. 3.0 3.1 "Entrez Gene: TULP1 tubby like protein 1".

Further reading




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