SLCtables

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