×
![]()
- accession：NM_032458
- 基因别名：PHF6
- 基因描述：Homo sapiens PHD finger protein 6 (PHF6), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：1098
- 翻译后氨基酸长度：365
- TranscriptVariant：This variant (2, also called the 'PHF6b' variant) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
- 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]
- 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
