POF1B Gene

Alternative Names

  • POF1B
  • FLJ22792
  • Actin-Binding Protein, 34-KD
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OMIM Number

300603

NCBI Gene ID

79983

Uniprot ID

Q8WVV4

Length

102,850 bases

No. of Exons

17

No. of isoforms

1

Protein Name

Protein POF1B

Molecular Mass

68065 Da

Amino Acid Count

589

Genomic Location

chrX:85,276,894-85,379,743

Gene Map Locus
Xq21.1

Description

The POF1B gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [From Refseq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024921.4:c.986G>ALebanonNC_000023.11:g.85308188C>TBenign, Likely Pathogenic, Uncertain SignificanceNG_016358.1:g.76555G>A; NM_024921.4:c.986G>A; NP_079197.3:p.Arg329Gln7539874610794
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