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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PQBP1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID10084
Official gene symbolPQBP1
Full namepolyglutamine binding protein 1
Aliases,MRX55,MRXS3,MRXS8,NPW38,RENS1,SHS,
Gene summaryThis 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 mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.
LocationChromosome: X   Locus: Xp11.23
Gene position48755195 - 48760422  Map Viewer
Gene orientationplus
Gene size5228 bp
Gene sequence
OMIM ID300463