SLC25A46
Function
Transmembrane protein of the mitochondrial outer membrane that controls mitochondrial organization (PubMed:26168012, PubMed:27390132, PubMed:27543974). May regulate the assembly of the MICOS (mitochondrial contact site and cristae organizing system) complex which is essential to the biogenesis and dynamics of mitochondrial cristae, the inwards folds of the inner mitochondrial membrane (PubMed:27390132). Through its interaction with the EMC (endoplasmic reticulum membrane protein complex), could regulate mitochondrial lipid homeostasis and thereby mitochondrial fission (PubMed:27390132).
Involvement in disease
Neuropathy, hereditary motor and sensory, 6B, with optic atrophy
HMSN6B
An autosomal recessive neurologic disorder characterized by early-onset optic atrophy, progressive visual loss, and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease, with variable age at onset and severity. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities.
None
The disease is caused by variants affecting the gene represented in this entry.
Pontocerebellar hypoplasia 1E
PCH1E
A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH1E is an autosomal recessive form characterized by severe hypotonia and respiratory insufficiency apparent soon after birth. Additional features may include optic atrophy, peripheral neuropathy, dysmorphic features, congenital contracture or foot deformities, and seizures. Death occurs in the first days or weeks of life. Postmortem brain imaging show pontocerebellar atrophy and loss of anterior motor neurons in the spinal cord.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the mitochondrial carrier (TC 2.A.29) family.
Cellular localization
- Mitochondrion outer membrane
- Multi-pass membrane protein
Alternative names
TB1, SLC25A46, Mitochondrial outer membrane protein SLC25A46, Solute carrier family 25 member 46