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The was gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in was patients. Diseases associated with adra2a include lipodystrophy, familial partial, type 8 and lipodystrophy, congenital generalized, type 1. 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. Adra2a (adrenoceptor alpha 2a) is a protein coding gene 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.
This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Function, proteins, disorders, pathways, orthologs, and expression. Complete information for col4a3 gene (protein coding), collagen type iv alpha 3 chain, including A missense mutation in this gene causes myoclonus dystonia
Other mutations have been associated with schizophrenia Alternative splicing of this gene results in two transcript variants encoding different isoforms. This gene encodes a flavoprotein oxidoreductase that binds single stranded dna and is thought to contribute to apoptosis in the presence of bacterial and viral dna.
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