NP_115711
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
37,628 Da
NCBI Official Full Name
PHD finger protein 6 isoform 2
NCBI Official Synonym Full Names
PHD finger protein 6
NCBI Protein Information
PHD finger protein 6
UniProt Protein Name
PHD finger protein 6
UniProt Synonym Protein Names
PHD-like zinc finger protein
UniProt Synonym Gene Names
UniProt Entry Name
PHF6_HUMAN
NCBI Summary for PHF6
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]
UniProt Comments for PHF6
PHF6: May play a role in transcriptional regulation. Defects in PHF6 are the cause of Boerjeson-Forssman- Lehmann syndrome (BFLS); also known as Boerjeson- Forssman syndrome (BORJ). BFLS is a X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function; Nucleolus
Chromosomal Location of Human Ortholog: Xq26.3
Cellular Component: nucleoplasm; nucleolus; nucleus
Molecular Function: tubulin binding; ribonucleoprotein binding; protein binding; enzyme binding; DNA binding; zinc ion binding; histone binding; histone deacetylase binding; phosphoprotein binding
Biological Process: regulation of transcription, DNA-dependent; transcription, DNA-dependent
Disease: Borjeson-forssman-lehmann Syndrome
Research Articles on PHF6
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Products associated with anti-PHF6 antibody
Diseases associated with anti-PHF6 antibody
Organs/Tissues associated with anti-PHF6 antibody
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