Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: YNIVKIPPL QADKEDPISK SEIVVQFPCS DRFKPSYVHS FGLTPNYIVF VETPVKINLF KFLSSWSLWG ANYMDCFESN ETMGVWLHIA DKKRKKYLNN KYRTSPFNLF HHINTYEDNG FLIVDLCCWK GFEFVYNYLY LANLRENWEE VKKNARKAPQ PEVRRYVLPL NIDKADTGKN LVTLPNTTAT AILCSDETIW LEPEVLFSGP RQAFEFPQIN YQKYCGKPYT YAYGLGLNHF VPDRLCKLNV KTKETWVWQE PDSYPSEPIF VSHPDALEED DGVVLSVVVS PGAGQKPAYL LILNAKDLSE VARAEVEINI PVTFHGLFKK S (204-533 aa encoded by BC075036)
RPE65 is a major protein of the retinal pigment epithelium (RPE). RPE65 is essential for the regeneration of rhodopsin in the visual cycle. Mutations in RPE65 are responsible for certain forms of autosomal recessive severe retinal dystrophy, including Leber Congenital Amaurosis (LCA). Loss of function results in a block in retinoid processing required for the synthesis of 11-cis retinal and the accumulation of retinyl esters in the RPE.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: All-trans-retinyl-palmitate hydrolase; BCO family, member 3; Lutein isomerase; Meso-zeaxanthin isomerase; modifier of retinal degeneration 1; p63; RBP-binding membrane protein; retinal pigment epithelium 65-like; retinal pigment epithelium specific protein 65; retinal pigment epithelium, 65 kDa; Retinal pigment epithelium-specific 65 kDa protein; retinal pigment epithelium-specific protein 65kDa; Retinitis pigmentos; retinitis pigmentosa 20 (autosomal recessive); Retinoid isomerohydrolase; Retinol isomerase
Gene Aliases: 65kDa; A930029L06Rik; BCO3; LCA2; Mord1; mRPE65; rd12; RP20; RPE65; sRPE65
UniProt ID: (Human) Q16518, (Mouse) Q91ZQ5, (Rat) O70276
Entrez Gene ID: (Human) 6121, (Mouse) 19892, (Rat) 89826
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