SLC25A46
entrez
91137
canonical
uniprot
Q96AG3
canonical
ensembl
ENSG00000164209
resolver
ensp
ENSP00000348211
resolver
ensp
ENSP00000399717
resolver
genesymbol
SLC25A46
resolver
genesymbol_syn
TB1
resolver
hgnc
HGNC:25198
resolver
uniprot
A8K2F2
resolver
uniprot
B3KRE6
resolver
uniprot
B4DTA3
resolver
uniprot
B4DY98
resolver
uniprot
D3DSZ6
resolver
uniprot
D6R9W7
resolver
uniprot
D6RBG9
resolver
uniprot
Q04197
resolver
uniprot_entry
B4DY98_HUMAN
resolver
uniprot_entry
S2546_HUMAN
resolver
uniprot_sec
A8K2F2
resolver
uniprot_sec
B3KRE6
resolver
uniprot_sec
B4DTA3
resolver
uniprot_sec
D3DSZ6
resolver
uniprot_sec
D6R9W7
resolver
uniprot_sec
D6RBG9
resolver
uniprot_sec
Q04197
resolver
amino_acid_sequence
MHPRRPDGFDGLGYRGGARDEQGFGGAFPARSFSTGSDLGHWVTTPPDIPGSRNLHWGEKSPPYGVPTTSTPYEGPTEEPFSSGGGGSVQGQSSEQLNRFAGFGIGLASLFTENVLAHPCIVLRRQCQVNYHAQHYHLTPFTVINIMYSFNKTQGPRALWKGMGSTFIVQGVTLGAEGIISEFTPLPREVLHKWSPKQIGEHLLLKSLTYVVAMPFYSASLIETVQSEIIRDNTGILECVKEGIGRVIGMGVPHSKRLLPLLSLIFPTVLHGVLHYIISSVIQKFVLLILKRKTYNSHLAESTSPVQSMLDAYFPELIANFAASLCSDVILYPLETVLHRLHIQGTRTIIDNTDLGYEVLPINTQYEGMRDCINTIRQEEGVFGFYKGFGAVIIQYTLHAAVLQITKIIYSTLLQNNI
uniprot
proteins
disease_involvement
DISEASE: Neuropathy, hereditary motor and sensory, 6B, with optic atrophy (HMSN6B) [MIM:616505]: 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. {ECO:0000269|PubMed:26168012, ECO:0000269|PubMed:27430653, ECO:0000269|PubMed:27543974}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pontocerebellar hypoplasia 1E (PCH1E) [MIM:619303]: 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. {ECO:0000269|PubMed:27390132, ECO:0000269|PubMed:27543974, ECO:0000269|PubMed:28637197, ECO:0000269|PubMed:28653766}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000269|PubMed:26168012, ECO:0000269|PubMed:27390132, ECO:0000269|PubMed:27543974}.
uniprot
proteins
mass_dalton
46174
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1651562
uniprot
proteins
pubmed
16949250
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26168012
uniprot
proteins
pubmed
27390132
uniprot
proteins
pubmed
27430653
uniprot
proteins
pubmed
27543974
uniprot
proteins
pubmed
28637197
uniprot
proteins
pubmed
28653766
uniprot
proteins
sequence_length
418
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:26168012, ECO:0000269|PubMed:27390132, ECO:0000269|PubMed:27543974}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 103..123; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 167..187; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 202..222; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 258..278; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 314..334; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 382..402; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins