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Complete information for slc12a3 gene (protein coding), solute carrier family 12 member 3, including Complete information for nmnat2 gene (protein coding), nicotinamide nucleotide adenylyltransferase 2, including Function, proteins, disorders, pathways, orthologs, and expression.

Genes - Definition, Function, and Mutations

Complete information for lrrk2 gene (protein coding), leucine rich repeat kinase 2, including Lmna (lamin a/c) is a protein coding gene This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria

Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency.

Mutations in this gene cause gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. Huntingtin is a disease gene linked to huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis.