SLC25A42
entrez
284439
canonical
uniprot
Q86VD7
canonical
ensembl
ENSG00000181035
resolver
ensp
ENSP00000326693
resolver
ensp
ENSP00000527100
resolver
ensp
ENSP00000527101
resolver
ensp
ENSP00000527103
resolver
ensp
ENSP00000527104
resolver
ensp
ENSP00000527105
resolver
ensp
ENSP00000527106
resolver
ensp
ENSP00000527109
resolver
ensp
ENSP00000527110
resolver
ensp
ENSP00000581471
resolver
ensp
ENSP00000627778
resolver
ensp
ENSP00000627779
resolver
ensp
ENSP00000627780
resolver
ensp
ENSP00000627781
resolver
ensp
ENSP00000627782
resolver
enst
ENST00000318596
resolver
enst
ENST00000857041
resolver
enst
ENST00000857042
resolver
enst
ENST00000857044
resolver
enst
ENST00000857045
resolver
enst
ENST00000857046
resolver
enst
ENST00000857047
resolver
enst
ENST00000857050
resolver
enst
ENST00000857051
resolver
enst
ENST00000911412
resolver
enst
ENST00000957719
resolver
enst
ENST00000957720
resolver
enst
ENST00000957721
resolver
enst
ENST00000957722
resolver
enst
ENST00000957723
resolver
genesymbol
SLC25A42
resolver
hgnc
HGNC:28380
resolver
uniprot
D2T2J5
resolver
uniprot
O14553
resolver
uniprot
O43378
resolver
uniprot
Q8NHH2
resolver
uniprot_entry
Q8NHH2_HUMAN
resolver
uniprot_entry
S2542_HUMAN
resolver
uniprot_sec
D2T2J5
resolver
uniprot_sec
O14553
resolver
uniprot_sec
O43378
resolver
amino_acid_sequence
MGNGVKEGPVRLHEDAEAVLSSSVSSKRDHRQVLSSLLSGALAGALAKTAVAPLDRTKIIFQVSSKRFSAKEAFRVLYYTYLNEGFLSLWRGNSATMVRVVPYAAIQFSAHEEYKRILGSYYGFRGEALPPWPRLFAGALAGTTAASLTYPLDLVRARMAVTPKEMYSNIFHVFIRISREEGLKTLYHGFMPTVLGVIPYAGLSFFTYETLKSLHREYSGRRQPYPFERMIFGACAGLIGQSASYPLDVVRRRMQTAGVTGYPRASIARTLRTIVREEGAVRGLYKGLSMNWVKGPIAVGISFTTFDLMQILLRHLQS
uniprot
proteins
disease_involvement
DISEASE: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (MECREN) [MIM:618416]: An autosomal recessive disease characterized by muscle weakness, developmental delay, lactic acidosis, and encephalopathy. The severity of the clinical manifestations is highly variable even within affected individuals of the same family, ranging from asymptomatic lactic acidosis to severe developmental regression, epilepsy, intellectual disability, metabolic crisis, and multiorgan involvement. {ECO:0000269|PubMed:26541337, ECO:0000269|PubMed:29327420, ECO:0000269|PubMed:29923093, ECO:0000269|PubMed:30237576, ECO:0000269|PubMed:40925986}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate. {ECO:0000269|PubMed:19429682, ECO:0000269|PubMed:40925986}.
uniprot
proteins
mass_dalton
35409
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16949250
uniprot
proteins
pubmed
19429682
uniprot
proteins
pubmed
26541337
uniprot
proteins
pubmed
29327420
uniprot
proteins
pubmed
29923093
uniprot
proteins
pubmed
30237576
uniprot
proteins
pubmed
40925986
uniprot
proteins
sequence_length
318
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:19429682}; Multi-pass membrane protein {ECO:0000269|PubMed:19429682}.
uniprot
proteins
transmembrane_region
TRANSMEM 33..53; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 89..109; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 135..155; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 186..206; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 230..250; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 293..313; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins