GRPEL1

Chr 4

GrpE like 1, mitochondrial

Also known as: GrpE, HMGE, mt-GrpE#1

NCBI Gene: 80273 ENSG00000109519 UniProt: Q9HAV7 OMIM: 606173

The GRPEL1 protein is an essential component of the PAM complex that controls mitochondrial HSP70 binding to substrate proteins during ATP-dependent protein import into the mitochondrial matrix. Mutations cause autosomal recessive mitochondrial disease with early infantile onset, characterized by severe developmental delay, seizures, hypotonia, and progressive neurodegeneration. The gene shows moderate constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity and unfolded protein binding activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jun 2026]

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

0.78

LOEUF

Mechanism· predicted