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Complete information for slc12a3 gene (protein coding), solute carrier family 12 member 3, including Mutations in this gene cause gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. Function, proteins, disorders, pathways, orthologs, and expression.
Diseases associated with map4k4 include anus, imperforate and renal dysplasia. 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. Complete information for yap1 gene (protein coding), yes1 associated transcriptional regulator, including
This gene encodes a protein belonging to the raf family of serine/threonine protein kinases
This protein plays a role in regulating the map kinase/erk signaling pathway, which affects cell division, differentiation, and secretion. 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.
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