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Search term:"60-31-1"

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6 matches found for 60-31-1

retinitis pigmentosa 1 (autosomal dominant)
Synonyms DCDC4A, ORP1
Species Human (6101) , Species Mouse (19888) , Species Rat (681377) , Species Thale Cress (840916) , Species Thale Cress (827869) , Species dog (403565) , Species Horse (100053179) , Species cow (280916) , Species sheep (101114620) , Species naked mole-rat (101708003) , Species Domestic Rabbit (100355685) , Species domestic guinea pig (100715117)
Summary: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]