人 TCOF1 (NM_001008657) cDNA克隆

基本信息

Accession: NM_001008657
基因名称: TCOF1
基因别名: MFD1; TCS1; treacle
基因描述: Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 2877 (查看编码区序列)
翻译后氨基酸长度: 958 (查看氨基酸序列)
Transcript Variant: This variant (3) uses an alternate terminal exon and lacks 10 3' exons, compared to variant 4. The resulting isoform (c) has a significantly shorter and distinct C-terminus, compared to isoform d.

订购信息

产品编号 产品名称 载体 规格 价格
G104597 人 TCOF1 (NM_001008657) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 TCOF1 (NM_000356) cDNA克隆 transcript variant 2
人 TCOF1 (NM_001008657) cDNA克隆 transcript variant 3
人 TCOF1 (NM_001135243) cDNA克隆 transcript variant 4
人 TCOF1 (NM_001135244) cDNA克隆 transcript variant 5
人 TCOF1 (NM_001135245) cDNA克隆 transcript variant 6
人 TCOF1 (NM_001195141) cDNA克隆 transcript variant 7

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]

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