PQBP1: Proteins and Enzymes

PQBP1, also known as Polyglutamine-binding protein 1, is a nuclear polyglutamine-binding protein that may play a role in apoptosis and DNA replication. Ten isoforms of PQBP1 have been identified which are produced by alternative splicing. The canonical sequence, referred to as PQBP-1, is 265 amino acids long and approximately 30kdA. PQBP1 may be implicated in an x-linked mental retardation syndrome called Renpenning syndrome 1 (RENS1), as well as neurodegenerative diseases, coloboma, spastic diplegia, ataxia and neuronitis. PQBP1 has also been shown to interact with C14orf1, MED31, WBP11, CLTB, and SF3A2.