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Invitrogen
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Immunogen sequence: PIIVIEIYDQ DSMGKADFMG RTFAKPLVKM ADEAYCPPRF PPQLEYYQIY RGNATAGDLL AAFELLQIGP AGKADLPPIN GPVDVDRGPI MPVPMGIRPV LSKYRVEVLF WGLRDLKRVN L
Highest antigen sequence identity to the following orthologs: Mouse - 97%, Rat - 98%.
Otoferlin is a protein that in humans is encoded by the OTOF gene. Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has three C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has six C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multipleisoforms have been found for this gene.
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: fer-1-like family member 2; Fer-1-like protein 2; Otoferlin
基因别名: AUNB1; DFNB6; DFNB9; FER1L2; NSRD9; OTOF
UniProt ID: (Human) Q9HC10
Entrez Gene ID: (Human) 9381