IMMP1L

Chr 11

inner mitochondrial membrane peptidase subunit 1

Also known as: IMMP1, IMP1, IMP1-LIKE

NCBI Gene: 196294 ENSG00000148950 UniProt: Q96LU5 OMIM: 612323

The mitochondrial inner membrane peptidase complex, of which IMMP1L is a catalytic subunit, removes transit peptides to process nuclear-encoded proteins targeted to the mitochondrial intermembrane space. Mutations cause autosomal recessive Tourette syndrome with intellectual disability and other neurodevelopmental features. This gene shows minimal constraint against loss-of-function variants in the general population.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.42

LOEUF

Multiple*

Mechanism· predicted

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