Solute Carrier Family 25 (Mitochondrial Carrier: Glutamate), Member 22 (SLC25A22) (C-Term)
Clone
polyclonal
Host Species
Rabbit
Reactive Species
human
Isotype
n/a
Format
serum
Size
100 μL
Concentration
n/a
Applications
Immunohistochemistry (IHC),Western Blotting (WB)
Reviews / Ratings
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Description
Function: Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H+. Defects in SLC25A22 are the cause of epileptic encephalopathy early infantile type 3 (EIEE3), 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.Subcellular location: Mitochondrion inner membrane, Multi-pass membrane proteinTissue specificity: Highly expressed in most tissues. Also known as: GC-1, Glutamate/H(+) symporter 1, Solute carrier family 25 member 22, SLC25A22, GC1.
Immunogen
A synthetic peptide from c-terminal region of human Mitochondrial glutamate carrier 1 (SLC25A22) conjugated to an immunogenic carrier protein was used as the antigen.