MROH1
Chr 8maestro heat like repeat family member 1
Also known as: HEATR7A
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MROH1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools