Immunogen sequence: NPQPQQWSKM SVKKAPPPTR PKRNDSTRLT QAEISEQPTM ATVVPQVPTS PKSSLSVQPG FLADLNRTLQ RKSITRHGSL SSRMSRAEPT ATMDDMALPP PPPELLSDQQ KAGYGGSHIS GYATLRRGPP PAPPKRDQNT KLSR
Highest antigen sequence identity to the following orthologs: Mouse - 95%, Rat - 95%.
This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency.
Protein Aliases: amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 18 protein; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 9 protein; Lamellipodin; PREL-2; Proline-rich EVH1 ligand 2; Protein RMO1; RAPH1; Ras-associated and pleckstrin homology domains-containing protein 1
Gene Aliases: ALS2CR18; ALS2CR9; KIAA1681; LPD; PREL-2; PREL2; RalGDS/AF-6; RAPH1; RMO1
UniProt ID: (Human) Q70E73
Entrez Gene ID: (Human) 65059
Molecular Function: scaffold/adaptor protein