PACRG

Chr 6

parkin coregulated

Also known as: BUG21, GLUP, HAK005771, PACRG2.1, PARK2CRG, pf12

NCBI Gene: 135138 ENSG00000112530 UniProt: Q96M98

PACRG encodes a microtubule inner protein required for motile cilia beating and also suppresses neuronal cell death induced by unfolded proteins. Mutations cause primary ciliary dyskinesia with autosomal recessive inheritance, affecting respiratory function and ciliary motility. The gene shows minimal constraint to loss-of-function variants and forms molecular complexes with chaperones that may be protective in neurodegenerative processes.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.24

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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