PHD Finger Protein 6

Alternative Names

  • PHF6
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OMIM Number

300414

NCBI Gene ID

84295

Uniprot ID

Q8IWS0

Length

4,400,001 bases

No. of Exons

10

No. of isoforms

5

Protein Name

PHD finger protein 6

Molecular Mass

41290 Da

Amino Acid Count

365

Genomic Location

chrX:134,500,000-138,900,000

Gene Map Locus
Xq26.3

Description

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 cognitive disability, 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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001015877.1:c.2T>CLebanonNC_000023.11:g.134377619T>CPathogenicPathogenicBorjeson-Forssman-Lehmann SyndromeNG_008886.1:g.9308T>C; NM_001015877.1:c.2T>C; NP_001015877.1:p.Met1?13263030011068
NM_001015877.1:c.391C>TUnited Arab EmiratesNC_000023.11:g.134393925C>TLikely PathogenicBorjeson-Forssman-Lehmann SyndromeNG_008886.1:g.25614C>T; NM_001015877.1:c.391C>T; NP_001015877.1:p.His131Tyr
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