人 PHF6 (NM_001015877) cDNA克隆

基本信息

Accession: NM_001015877
基因名称: PHF6
基因别名: BFLS; BORJ; CENP-31
基因描述: Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1098 (查看编码区序列)
翻译后氨基酸长度: 365 (查看氨基酸序列)
Transcript Variant: This variant (1, also called the "PHF6a" variant) represents the shortest transcript and encodes the shortest isoform (1).

订购信息

产品编号 产品名称 载体 规格 价格
G121601 人 PHF6 (NM_001015877) 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 PHF6 (NM_001015877) cDNA克隆 transcript variant 1
人 PHF6 (NM_032458) cDNA克隆 transcript variant 2
人 PHF6 (NM_032335) cDNA克隆 transcript variant 3

基因简介

This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]

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