TULP1, Official Symbol TULP1provided by HGNC Official Full Name TUB like protein 1provided by HGNC Primary source HGNC:HGNC:12423 See related Ensembl:ENSG00000112041 MIM:602280; AllianceGenome:HGNC:12423 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RP14; LCA15; TUBL1 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] Expression Low expression observed in reference dataset See more Orthologs mouse all