靶标:
PQBP1
产品别名:
MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS; PQBP1; polyglutamine binding protein 1; polyglutamine binding protein 1; polyglutamine-binding protein 1; 38 kDa nuclear protein containing a WW domain; polyglutamine tract-binding protein 1; 多谷氨酰胺结合蛋白1;
背景信息:
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 mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.