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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.
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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.
