SLC25A4
Protein name:
ANT1 (adenine nucleotide translocase-1)
Aliases:
AAC1, T1, PEO2, PEO3
Substrates:
ADP, ATP
Transport type:
Exchanger / ADP, ATP
Tissue and cellular expression:
heart, skeletal muscle, much less in brain, pancreas, prostate, kidney, lung, thymus
Subcellular expression:
inner mitochondrial membrane
Disease:
AAC1 deficiency, autosomal dominant progressive external ophthalmoplegia (adPEO)
Locus:
4q35
Sequence ID:
NP_001142.2,
NM_001151.3
Gene ID:
291
Splice variants:
N/D
ADT1_HUMAN (UniProt)
Gene names:
SLC25A4, ANT1
Protein names and data:
ADT1_HUMAN, Full=ADP/ATP translocase 1, Full=ADP,ATP carrier protein 1;Full=ADP,ATP carrier protein, heart/skeletal muscle isoform T1;Full=Adenine nucleotide translocator 1;Short=ANT 1;Full=Solute carrier family 25 member 4;
Length: 298 a.a., Mass: 33064 Da,
fasta formatted sequence
Function:
Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane
Disease:
(OMIM:
103220 609283)
Defects in SLC25A4 are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]. Progressive external ophthalmoplegia is characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged- red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism
Cellular location:
Mitochondrion inner membrane; Multi-pass membrane protein
Database cross-references
UniProt:
P12235
NextBio:
1187
OMIM:
103220
609283
Ensembl:
ENST00000281456
GeneCard:
GC04P185143
TCDB:
2.A.29.1.2
PharmGenUCSF:
SLC25A4
Guide to Pharmacology:
SLC25A4 (1062)
Mitochondrial nucleotide transporter subfamily (1062)
HGNC:
HGNC:10990
Genetic variants
See also Ensembl:ENST00000281456
90 - 90
A -> D (in PEOA2). VAR_038814
98 - 98
L -> P (in PEOA2). VAR_022459
104 - 104
D -> G (in PEOA2; dbSNP:rs28999114). VAR_022460
28999114
114 - 114
A -> P (in PEOA2). VAR_012111
123 - 123
A -> D (in hypertrophic cardiomyopathy; sporadic patient with mild myopathy, exercise intolerance and lactic acidosis but no ophthalmoplegia). VAR_038815
289 - 289
V -> M (in PEOA2; also found in a sporadic case affected by PEO). VAR_012112