SLC25A46

Chr 5

solute carrier family 25 member 46

Also known as: HMSN6B, PCH1E

NCBI Gene: 91137 ENSG00000164209 UniProt: Q96AG3

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.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeuropathy, hereditary motor and sensory, 6B, with optic atrophy

UniProtPontocerebellar hypoplasia 1E

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.91

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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