The NLRP3 gene encodes NLR Family Pyrin Domain Containing 3 - a pyrin-like protein which contains a pyrin domain, a nucleotide binding site (NBS) domain, and a leucine-rich repeat sequence (LRR) motif.
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The CAV1 gene is responsible for encoding the Caveolin 1 (CAV1) protein, also called caveolin-1 (CAV-1), which belongs to the Caveolin family of integral membrane proteins.
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Mutations in the excision and repair of cross-complementation group 6 (ERCC6) gene is known to result in Cockayne syndrome B (CSB), among some other disorders.
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The recombination-activating genes, RAG1 & RAG2, play an essential role in lymphoid cell V(D)J recombination, which affects the production of highly diverse antibodies and T cell receptors (TCRs) in B and T cells. We review the background information, research insights, and applications of RAG1 & RAG2, hoping to provide helpful information for your scientific innovation.
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The FGF21 gene plays a significant role in the pathogenesis of metabolic diseases such as non-alcoholic fatty liver disease (NAFLD), obesity, and insulin resistance. In this article, we review the FGF21 gene, a pathogenic gene of metabolic diseases, hoping to give you insights on FGF21 and its role in metabolic disorders.
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Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration. It usually starts in early childhood. In this article we review the background information and research insights of the dystrophin (DMD) protein-coding gene, a pathogenic gene of Duchenne Muscular Dystrophy.
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Neurodevelopmental disorders are impairments of the brain and central nervous system that affect a patient’s behavior and cognition. In this article we review the MECP2 gene, a pathogenic gene of neurodevelopmental disorders, hoping to help researchers gaining proper understanding of the gene, its encoded MeCP2 protein, and related neurodevelopmental disorders.
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Parkinson's Disease (PD) is a neurodegenerative disease that cannot be cured. In this article, we review the background information, research insights and applications on LRRK2, a pathogenic gene of PD, providing useful information for further scientific innovation.
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Parkinson's disease (PD) is a neurodegenerative disorder that affects behavior and motor skills. In this article, we review the background information, research insights, and applications related to PRKN, a pathogenic gene of PD.
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