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- accession：NM_001135244
- 基因别名：TCOF1
- 基因描述：Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 5, mRNA.
- 载体：现货载体
- CDS区长度：4356
- 翻译后氨基酸长度：1451
- TranscriptVariant：This variant (5) lacks the alternate in-frame exon 21, also known as XIX, and uses an alternate in-frame splice site in the central coding region, compared to variant 4. The resulting isoform (e) lacks an internal segment, contains a one residue insertion, and has the same N- and C-termini, compared to isoform d.
- 基因简介：This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 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
