Gene: PQBP1
Alternate names for this Gene: MRX2|MRX55|MRXS3|MRXS8|NPW38|RENS1|SHS
Gene Summary: 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.
Gene is located in Chromosome: X
Location in Chromosome : Xp11.23
Description of this Gene: polyglutamine binding protein 1
Type of Gene: protein-coding
rs606231193 in
PQBP1 gene and
Dysmorphic features
PMID 20950397 2011 The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
PMID 16740914 2006 Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.
PMID 15782410 2005 Renpenning syndrome comes into focus.
PMID 13981686 1962 Familial sex-linked mental retardation.
PMID 15355434 2004 Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
PMID 14634649 2003 Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
rs121917899 in
PQBP1 gene and
Renpenning syndrome 1
PMID 21315190 2011 A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
PMID 23512658 2013 PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.
PMID 16740914 2006 Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.
PMID 26046437 2015 PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.
PMID 20410308 2010 Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.
PMID 14634649 2003 Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
PMID 7943045 1994 Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
PMID 15024694 2004 Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
PMID 17033686 2007 A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.