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- accession：NM_004802
- 基因别名：AUNB1; DFNB6; DFNB9; NSRD9; FER1L2
- 基因描述：Homo sapiens otoferlin (OTOF), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：3693
- 翻译后氨基酸长度：1230
- TranscriptVariant：This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b, also called 'short form 1') has a shorter N-terminus and lacks a segment compared to isoform a.
- 基因简介：Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 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 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
