Gene Symbol | TULP1 |
Entrez Gene ID | 7287 |
Full Name | tubby like protein 1 |
Synonyms | LCA15,RP14,TUBL1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This 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]. |
Disorder MIM: | |
Disorder Html: | Retinitis pigmentosa 14, 600132 (3); Leber congenital amaurosis 15, 613843 (3) |