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Invitrogen
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Immunogen sequence: SQALVLRSRL RLPEMVGHPA FAVIFQLEYV FSSPAGVDGN AASVTSLSNL ACMHMVRWAV WNPLLEADSG RVTLPLQGGI QPNPSHCLVY KVPSASMSSE EVKQVESGTL RFQ
Highest antigen sequence identity to the following orthologs: Mouse - 79%, Rat - 80%.
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。