GeneCards - Human Genes | Gene Database | Gene Search
2024年9月30日 · GeneCards is a searchable, integrated, database of human genes that provides concise genomic related information, on all known and predicted human genes.
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ACTG1 Gene - GeneCards | ACTG Protein | ACTG Antibody
2024年10月1日 · ACTG1 (Actin Gamma 1) is a Protein Coding gene. Diseases associated with ACTG1 include Deafness, Autosomal Dominant 20 and Baraitser-Winter Syndrome 2. Among its related pathways are Signaling downstream of RAS mutants and Regulation of actin dynamics for phagocytic cup formation.
CTNNB1 Gene - GeneCards | CTNB1 Protein | CTNB1 Antibody
2024年10月1日 · GeneCards Summary for CTNNB1 Gene. CTNNB1 (Catenin Beta 1) is a Protein Coding gene. Diseases associated with CTNNB1 include Pilomatrixoma and Colorectal Cancer. Among its related pathways are Signaling by CTNNB1 phospho-site mutants and Gastrulation.
APOE Gene - GeneCards | APOE Protein | APOE Antibody
2024年10月1日 · APOE (Apolipoprotein E) is a Protein Coding gene. Diseases associated with APOE include Lipoprotein Glomerulopathy and Hyperlipoproteinemia, Type Iii. Among its related pathways are Plasma lipoprotein assembly, remodeling, and clearance and Statin inhibition of cholesterol production.
CDKN2A Gene - GeneCards | ARF Protein | ARF Antibody
2024年10月1日 · GeneCards Summary for CDKN2A Gene. CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) is a Protein Coding gene. Diseases associated with CDKN2A include Melanoma, Cutaneous Malignant 2 and Melanoma-Pancreatic Cancer Syndrome.
BCL6 Gene - GeneCards | BCL6 Protein | BCL6 Antibody
2024年10月1日 · BCL6 (BCL6 Transcription Repressor) is a Protein Coding gene. Diseases associated with BCL6 include Intravascular Large B-Cell Lymphoma and High-Grade B-Cell Lymphoma Double-Hit/Triple-Hit. Among its related pathways are Gene expression (Transcription) and Cytokine Signaling in Immune system.
PIK3CA Gene - GeneCards | PK3CA Protein | PK3CA Antibody
2024年10月2日 · PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha) is a Protein Coding gene. Diseases associated with PIK3CA include Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome and Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi.
GBA1 Gene - GeneCards | GBA1 Protein | GBA1 Antibody
2024年10月2日 · This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides.
HBB Gene - GeneCards | HBB Protein | HBB Antibody
2024年10月2日 · HBB (Hemoglobin Subunit Beta) is a Protein Coding gene. Diseases associated with HBB include Sickle Cell Disease and Beta-Thalassemia, Dominant Inclusion Body Type. Among its related pathways are Innate Immune System and Erythrocytes take up carbon dioxide and release oxygen.