SLC25A20
entrez
788
canonical
uniprot
O43772
canonical
ensembl
ENSG00000178537
resolver
ensp
ENSP00000326305
resolver
enst
ENST00000319017
resolver
genesymbol
SLC25A20
resolver
genesymbol_syn
CAC
resolver
genesymbol_syn
CACT
resolver
hgnc
HGNC:1421
resolver
uniprot
B2R7F4
resolver
uniprot
Q9UIQ2
resolver
uniprot_entry
MCAT_HUMAN
resolver
uniprot_sec
B2R7F4
resolver
uniprot_sec
Q9UIQ2
resolver
amino_acid_sequence
MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPSLPGQPPMYSGTFDCFRKTLFREGITGLYRGMAAPIIGVTPMFAVCFFGFGLGKKLQQKHPEDVLSYPQLFAAGMLSGVFTTGIMTPGERIKCLLQIQASSGESKYTGTLDCAKKLYQEFGIRGIYKGTVLTLMRDVPASGMYFMTYEWLKNIFTPEGKRVSELSAPRILVAGGIAGIFNWAVAIPPDVLKSRFQTAPPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRAFPANAACFLGFEVAMKFLNWATPNL
uniprot
proteins
disease_involvement
DISEASE: Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138]: A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. {ECO:0000269|PubMed:12859414, ECO:0000269|PubMed:15057979, ECO:0000269|PubMed:15365988}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates the electroneutral exchange of acylcarnitines (O-acyl-(R)-carnitine or L-acylcarnitine) of different acyl chain lengths (ranging from O-acetyl-(R)-carnitine to long-chain O-acyl-(R)-carnitines) with free carnitine ((R)-carnitine or L-carnitine) across the mitochondrial inner membrane, via a ping-pong mechanism (Probable) (PubMed:12892634, PubMed:18307102). Key player in the mitochondrial oxidation pathway, it translocates the fatty acids in the form of acylcarnitines into the mitochondrial matrix, where the carnitine palmitoyltransferase 2 (CPT-2) activates them to undergo fatty acid beta-oxidation (Probable). Catalyzes the unidirectional transport (uniport) of carnitine at lower rates than the antiport (exchange) (PubMed:18307102). {ECO:0000269|PubMed:12892634, ECO:0000269|PubMed:18307102, ECO:0000305|PubMed:18307102, ECO:0000305|PubMed:20347717}.
uniprot
proteins
mass_dalton
32944
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
12859414
uniprot
proteins
pubmed
12892634
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057979
uniprot
proteins
pubmed
15365988
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18307102
uniprot
proteins
pubmed
20347717
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
9399886
uniprot
proteins
pubmed
9837782
uniprot
proteins
sequence_length
301
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 13..31; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 74..93; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 113..131; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 171..190; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 212..230; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 268..287; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins