Function
Involved in hearing and vision as member of the USH2 complex (PubMed:20502675). Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear (PubMed:15590699). Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear (PubMed:20502675, PubMed:24334608). In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport (PubMed:20502675).
Sequence
MNAQLDGLSVSSSSTGSLGSAAAAAGGGGGAGLRLLSANVRQLHQALTALLSEPEREQFTHCLNAYHARRNVFDLVRTLRVLLDSPVKRRLLPMLRLVIPRSDQLLFDQYTAEGLYLPATTPYRQPAWAAPDGAGPGEVRLVSLRRAKAHEGLGFSIRGGSEHGVGIYVSLVEPGSLAEKEGLRVGDQILRVNDKSLARVTHAEAVKALKGSKKLVLSVYSAGRIPGGYVTNHIYTWVDPQGRSTSPPSSLPQPHGSTLRQREDDRRSTLHLLQSGDEKKVNLVLGDGRSLGLTIRGGAEYGLGIYITGVDPGSEAESSGLKVGDQILEVNGRSFLNILHDEAVKLLKSSRHLILTVKDVGRLPHARTTVDQTKWIASSRIGESVANSAGFPGDHTEEGTSKPGFYKGPAGSQVTLSSLGNQTRALLDDQARHLLTEQERATMMYYLAQYRGGTISVEAMVMALFELLNTHAKFSLLSEVRSIISPQDLDRFDHLVLRREIESMKARQPPGPGVGDTYSMVSYSDTGSSTGSHGTSTTVSSARERLLWLIDLMENTLDLEGTGETTQGSTNALPDVSVDDVKSPSEDLPGIKPPPPPPPLAQGHDRLLGQPRKPGREDPAPLSSAAHSGIVFSAPRNRSPPPGTAPTPGPSSAQDSPSSPIYASISHANPSSRKPLDTHLALVNQHPIGPFPRVQSPPHLKSPPAETPGAGACLPPPSPSEHPDAVGANQHFVLVEVHRPDSEPDVNEVRALPQTRTASTLSQLSDSGQTLSEDSGVDAGETEASTSGRGRQTASAKNKNGKEQPRTERTAEGANKPPGLLEPTSTLVRVRKSAATLGIAIEGGANTRQPLPRIVTIQRGGSAHNCGQLKVGHVILEVNGQTLRGKEHKEAARIIAEAFKTKERDYIDFLVTEFNVML