Disease relevance of SLC25A22

• The fold of DAA is similar to that of the penicillin-recognizing proteins, especially d-alanyl-d-alanine-carboxypeptidase from Streptomyces R61, and class C beta-lactamase from Entereobacter cloacae strain GC1 [1].
• Using hGC-1 purified from baculovirus Sf9 cells we demonstrated that hGC-1 is a secreted glycoprotein containing N-linked carbohydrate chains and forms disulfide-bonded multimers [2].

Psychiatry related information on SLC25A22

• Moreover, expression studies showed that, during human development, SLC25A22 is specifically expressed in the brain, within territories proposed to contribute to the genesis and control of myoclonic seizures [3].

High impact information on SLC25A22

• Here, we report the genetic mapping of an autosomal recessive form of this condition to chromosome 11p15.5 and the identification of a missense mutation (p.Pro206Leu) in the gene encoding one of the two mitochondrial glutamate/H(+) symporters (SLC25A22, also known as "GC1") [3].
• Outer segment membranes of GC1(-/-) and GC double knock-out cones were destabilized and devoid of cone transducin (alpha- and gamma-subunits), cone phosphodiesterase, and G protein-coupled receptor kinase 1, whereas cone pigments were present at reduced levels [4].
• Retinal guanylate cyclases 1 and 2 (GC1 and GC2) are responsible for synthesis of cyclic GMP in rods and cones, but their individual contributions to phototransduction are unknown [4].
• We report here that the deletion of both GC1 and GC2 rendered rod and cone photoreceptors nonfunctional and unstable [4].
• Although only unique rearrangements were amplified from T cells of GC2 and GC3, 11 of 28 potentially functional rearrangements amplified from GC1 originated from four different clones [5].

Biological context of SLC25A22

• Total GC content was 49.83%, and GC1, GC2 and GC3 contents were 56.32%, 43.15% and 50.00%, respectively [6].
• Our studies demonstrated that hGC-1, an extracellular matrix glycoprotein, facilitates cell adhesion [2].
• Induction of olfactomedin 4 (OLFM4(GW112/hGC-1)) in cancer cells was recently reported to have a novel antiapoptotic action via binding to the potent apoptosis inducer GRIM-19 [7].

Associations of SLC25A22 with chemical compounds

• After 120 days of washout (day 180), the GC patients were divided into two age-matched groups: in 10 patients (GC1 group) the washout was prolonged for a further 120 days; in 15 patients (GC2 group) a second 60-day period of citicoline treatment was followed by a second 120-day period of washout [8].
• GC3 (3) was found to be the 4-hydroxybenzoate ester derivative of decarbamoylsaxitoxin, while GC1 (1) and GC2 (2) are the epimeric 11-hydroxysulfate derivatives of GC3 (3) [9].
• However, cysteine residues at 83, 85, 246 and 437 are essential for secretion, and cysteine 226 is critical for hGC-1 multimer formation [2].

References