HM13

Chr 20

histocompatibility minor 13

Also known as: H13, HM13-IT1, IMP1, IMPAS, IMPAS-1, MSTP086, PSENL3, PSL3

NCBI Gene: 81502 ENSG00000101294 UniProt: Q8TCT9 OMIM: 607106

This endoplasmic reticulum-localized aspartic protease catalyzes intramembrane proteolysis of signal peptides after their cleavage from precursor proteins, generates HLA-E epitopes for immune recognition, and processes hepatitis C virus core protein. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.43), indicating intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.43

LOEUF

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Mechanism