ADT1_HUMAN
Source:
PM23856902
Marked as 'Integral membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
SLC25A4
, ANT1
Protein names and data:
ADT1_HUMAN
, ADP/ATP translocase 1
, ADP,ATP carrier protein 1; ADP,ATP carrier protein, heart/skeletal muscle isoform T1; Adenine nucleotide translocator 1; ANT 1; Solute carrier family 25 member 4
Lenght: 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
)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]: A disorder 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Mitochondrion inner membrane; Multi-pass membrane protein.
Genetic variants
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
Database cross-references
UniProt:
P12235
Ensembl:
ENST00000281456
MIM:
103220
MIM:
609283
neXtProt:
NX_P12235
Antibodypedia:
P12235
(may not find the protein thus also not any antibody)
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