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Proteintech
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Immunogen sequence: MNDWHRIFT QNVLVPPHPQ RARQPWKEST AFQCVLKWLD GPVIRQGVLE VLSEVECHLR VSFFDVTYRH FFGRTWKTTV KPTKRPPSRI VFNEPLYFHT SLNHPHIVAV VEVVAEGKKR DGSLQTLSCG FGILRIFSNQ PDSPISASQD KRLRLYHGTP RALLHPLLQD PAEQNRHMTL IENCSLQYTL KPHPALEPAF HLLPENLLVS GLQQIPGLLP AHGESGDALR KPRLQKPITG HLDDLFFTLY PSLEKFEEEL LELHVQDHFQ EGCGPLDGGA LEILERRLRV GVHNGLGFVQ RPQVVVLVPE MDVALTRSAS FSRKVVSSSK TSSGSQALVL RSRLRLPEMV G (1-350 aa encoded by BC040520)
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Nephrocystin-4; Nephroretinin; POC10 centriolar protein homolog
基因别名: 4930564O18Rik; KIAA0673; nmf192; NPHP4; POC10; SLSN4
UniProt ID: (Human) O75161, (Mouse) P59240
Entrez Gene ID: (Dog) 489625, (Human) 261734, (Mouse) 260305