SLC25A46
Chr 5ARsolute carrier family 25 member 46
Also known as: HMSN6B, PCH1E
The protein is a transmembrane protein of the mitochondrial outer membrane that controls mitochondrial organization by promoting mitochondrial fission and regulating the MICOS complex assembly, which is essential for mitochondrial cristae biogenesis and dynamics. Mutations cause autosomal recessive hereditary motor and sensory neuropathy type VIB and pontocerebellar hypoplasia type 1E through disruption of mitochondrial fission and formation of hyperfilamentous mitochondria.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC25A46 · 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