solute carrier family 25 member 46
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalHereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal+8 more panels — install the extension to see the full list inline on any page.
neuropathy, hereditary motor and sensory, type 6B
neuropathy, hereditary motor and sensory, type vib
pontocerebellar hypoplasia, type 1E
hereditary disease
cerebellar ataxia
aceruloplasminemia
optic atrophy
asthma
pontocerebellar hypoplasia type 1
Leber hereditary optic neuropathy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Mitochondrial outer membrane protein SLC25A46
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)
Curated MONDO disease pages that list SLC25A46 among their top associated genes.
SLC25A46 · Q96AG3
Mean pLDDT
73.9/ 100
Confident
418 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
