Aliases

• 38 kDa nuclear protein containing a WW domain
• MRX55
• MRXS3
• MRXS8
• NPW38
• Npw38
• PQBP-1
• PQBP1
• Polyglutamine tract-binding protein 1
• RENS1
• SHS
• Sutherland-Haan X-linked mental retardation syndrome
• mental retardation, X-linked 55
• nuclear protein containing WW domain 38 kD
• polyglutamine binding protein 1
• polyglutamine tract-binding protein 1
• polyglutamine-binding protein 1

Description

From NCBI Gene: 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.[provided by RefSeq, Nov 2009]

Attributes

QA State

Curated

Type

Gene

HGNC Name

PQBP1