Synonyms:ENTREZ:10084, HGNC:9330, MIM:300463, MRX2, MRX55, MRXS3, MRXS8, NM_001032381, NM_001032382, NM_001032383, NM_001032384, NM_001032385, NM_001167989, NM_001167990, NM_001167992, NM_005710, NM_144494, NM_144495, NPW38, NP_001027553, NP_001027554, NP_001027555, NP_001027556, NP_001161461, NP_001161462, NP_001161464, NP_005701, NP_652766, PQBP1, RENS1, SHS, XM_005272571, XM_005272572, XM_011543884, XM_017029207, XP_005272628, XP_005272629, XP_011542186, XP_016884696, polyglutamine binding protein 1
Omim:OMIM:300463
Id:ENSG00000102103
Hgnc:HGNC:9330
Description:polyglutamine binding protein 1
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.[provided by RefSeq, Nov 2009]