MROH1

Chr 8

maestro heat like repeat family member 1

Also known as: HEATR7A, HPO27

NCBI Gene: 727957 ENSG00000179832 UniProt: Q8NDA8 OMIM: 621680

MROH1 encodes a lysosome fission factor that mediates the constriction and scission of lysosomal tubules by homooligomerizing at scission sites, which is essential for maintaining lysosome number, shape, size, and function. The gene is highly constrained against loss-of-function variants (LOEUF 0.486), suggesting that mutations would likely cause severe disease, though specific associated disorders have not yet been established in the literature. Given the critical role of lysosomes in cellular function, mutations would be expected to follow an autosomal recessive inheritance pattern and potentially affect multiple organ systems.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]

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)

—

P/LP submissions

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P/LP missense

0.49

LOEUF

Mechanism· predicted