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SCN2A Gene - GeneCards | SCN2A Protein | SCN2A Antibody This gene encodes one member of the sodium channel alpha subunit gene family Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder
LRRK2 Gene - GeneCards | LRRK2 Protein | LRRK2 Antibody LRRK2 (Leucine Rich Repeat Kinase 2) is a Protein Coding gene Diseases associated with LRRK2 include Parkinson Disease 8, Autosomal Dominant and Parkinson's Disease
SLC12A3 Gene - GeneCards | S12A3 Protein | S12A3 Antibody This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule
KRAS Gene - GeneCards | RASK Protein | RASK Antibody This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily A single amino acid substitution is responsible for an activating mutation
CDK13 Gene - GeneCards | CDK13 Protein | CDK13 Antibody The protein encoded by this gene is a member of the cyclin-dependent serine threonine protein kinase family Members of this family are well known for their essential roles as master switches in cell cycle control
CYP1A2 Gene - GeneCards | CP1A2 Protein | CP1A2 Antibody This gene encodes a member of the cytochrome P450 superfamily of enzymes The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids
WAS Gene - GeneCards | WASP Protein | WASP Antibody The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients
DHDH Gene - GeneCards | DHDH Protein | DHDH Antibody This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars
RPL13A Gene - GeneCards | RL13A Protein | RL13A Antibody This gene encodes a member of the L13P family of ribosomal proteins that is a component of the 60S subunit The encoded protein also plays a role in the repression of inflammatory genes as a component of the IFN-gamma-activated inhibitor of translation (GAIT) complex