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Rabbit Anti-SLC25A22 antibody
This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
Function:
nvolved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).
Subcellular Location:
Mitochondrion inner membrane.
Tissue Specificity:
Highly expressed in most tissues.
DISEASE:
Defects in SLC25A22 are the cause of epileptic encephalopathy early infantile type 3 (EIEE3) [MIM:609304]; also known as early myoclonic encephalopathy (EME) or neonatal epilepsy with suppression-burst pattern. Severe neonatal epilepsies with suppression-burst pattern are early-onset epileptic syndromes characterized by a typical EEG pattern. The suppression-burst pattern of the EEG is characterized by higher-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases. EME is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis of EME is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. EME inheritance is autosomal recessive.
Similarity:
Belongs to the mitochondrial carrier family.
Contains 3 Solcar repeats.
SWISS:
Q9H936
Gene ID:
79751
Database links:
Entrez Gene: 504371 Cow
Entrez Gene: 79751 Human
Entrez Gene: 68267 Mouse
Entrez Gene: 309111 Rat
Omim: 609302 Human
SwissProt: Q08DK4 Cow
SwissProt: Q9H936 Human
SwissProt: Q9D6M3 Mouse
Unigene: 16050 Cow
Unigene: 99486 Human
Unigene: 33729 Mouse
Unigene: 98367 Rat
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