LONP2

Chr 16

lon peptidase 2, peroxisomal

Also known as: LONP, LONPL, PLON, PSLON

NCBI Gene: 83752 ENSG00000102910 UniProt: Q86WA8

The protein encoded by LONP2 is an ATP-dependent serine protease that degrades misfolded and damaged proteins in peroxisomes and facilitates peroxisome matrix protein import. Mutations cause CODAS syndrome, characterized by cerebral malformations, cataracts, delayed ossification, and short stature, following an autosomal recessive inheritance pattern. The gene shows low constraint against loss-of-function variants, which is consistent with the recessive disease mechanism.

ResearchSummary from RefSeq, UniProt

In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent protease that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal proteins damaged by oxidation. The protein has an N-terminal Lon N substrate recognition domain, an ATPase domain, a proteolytic domain, and, in some isoforms, a C-terminal peroxisome targeting sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.35

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429