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 spl...
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 (BF
Somatic mutation of PHF6 gene in T-cell acute lymphoblatic leukemia, acute myelogenous leukemia and hepa- tocellular carcinoma. Acta Oncol. 2012;51(1):107-111.Yoo NJ, Kim YR, Lee SH. Somatic mutation of PHF6 gene in T-cell acute lymphoblatic leukemia, acute myelogenous leukemia and ...
Todd, M. A., Picketts, D. J., & PHF6 gene and intellectual disability. In Encyclopedia of Autism Spectrum Disorders (pp. 1-4). Springer, 2013. van den Berg, D. L., Snoek, T., Mullin, N. P., Yates, A., Bezstarosti, K., Demmers, J., ... & Poot, R. A. (2010). An...
Gene ID: 84295 种属 Homo sapiens DNA序列编号: NM_001015877.2 DNA描述 Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA DNA大小: 4430 bp DNA编码区: atgtcaagctcagttgaacagaaaaaagggcctacaagacagcgcaaatgtggcttttgt aagtcaaatagagacaaggaatgtggacagttactaatatctgaaaaccagaaggtggca ...
PHF6基因的基本信息如下: Species Gene Symbol Gene ID GenBank Accession Transcript Human PHF6 84295 BC005994 NM_032458 About the gene Official Symbol Previous Symbol Official Full Name Synonyms Location Gene Type Uniprot ID Pathway/Library Gene Summary 包装清单: 产品编号 L06361 — 保存条件: ...
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...
PHF6[HGNC][GeneCards][NCBI] 基因种类(locus group) protein-coding gene 同源简称(alias symbol) KIAA1823|MGC14797|CENP-31 基因家族代码(gene_family_id) 88[HGNC][GenScript] omim代码 300414 entrez码 84295[Vega] ensembl基因码 ENSG00000156531[Ensembl] ...
Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia# 5 10 15 20 25 30 35 40 45 Abstract: Background Mutations in the PHF6 gene were recently described in patients with T-cell acute lymphoblastic ...
Börjeson-Forssman-Lehmann syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene[J]. J Child Neurol, 2009,24(5):610-614. DOI: 10.1177/0883073808327830 . 返回引文位置Google Scholar 百度学术 万方数据 2 Di Donato N , Isidor B , Lopez Cazaux S ,et al. ...