Polyglutamine-Binding Protein 1

Alternative Names

  • PQBP1
  • Nuclear Protein Containing a WW Domain, 38-kD
  • NPW38

Associated Diseases

Renpenning Syndrome 1
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OMIM Number

300463

NCBI Gene ID

10084

Uniprot ID

O60828

Length

5,282 bases

No. of Exons

8

No. of isoforms

10

Protein Name

Polyglutamine-binding protein 1

Molecular Mass

30472 Da

Amino Acid Count

265

Genomic Location

chrX:48,897,861-48,903,142

Gene Map Locus
Xp11.23

Description

This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001032382.2:c.209_210delEgyptNC_000023.11:g.48901959_48901960delPathogenicRenpenning Syndrome 1NG_015967.1:g.9042_9043del; NM_001032382.2:c.209_210del; NP_001027554.1:p.Thr70ArgfsTer10
NM_001032382.2:c.459_462delUnited Arab EmiratesNC_000023.11:g.48902391AG[4]Likely Pathogenic, PathogenicLikely PathogenicRenpenning Syndrome 1NG_015968.2:g.748CT[4]; NM_001032382.2:c.459_462del; NP_001027554.1:p.Arg153SerfsTer4160623119310980
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