GeneDB
118 human genes and genetic conditions explained. From cancer risk genes to rare metabolic disorders, understand how genes shape health and disease.
Key Genes
BRCA1
BRCA1 Breast Cancer 1 is a tumor suppressor gene on chromosome 17q21.31. Its protein partners with BRCA2 and PALB2 in homologous r...
BRCA2
BRCA2 Breast Cancer 2 on chromosome 13q13.1 works with BRCA1 and PALB2 in homologous recombination DNA repair, where the BRCA2 pro...
TP53
TP53 on chromosome 17p13.1 encodes p53, the protein often called the guardian of the genome. It is the most frequently mutated gen...
CFTR
CFTR Cystic Fibrosis Transmembrane Conductance Regulator on chromosome 7q31.2 encodes an ATP gated chloride and bicarbonate channe...
HBB
HBB on chromosome 11p15.4 encodes beta globin, a subunit of adult hemoglobin A, which consists of two alpha and two beta chains. H...
APOE
APOE on chromosome 19q13.32 encodes apolipoprotein E, a major cholesterol carrier in the brain and a component of lipoproteins in ...
F8
F8 on chromosome Xq28 encodes coagulation factor VIII, a cofactor for factor IXa in the intrinsic tenase complex that activates fa...
DMD
DMD on chromosome Xp21.2 is the largest known human gene, spanning more than 2 million base pairs with 79 exons. It encodes dystro...
SCN5A
SCN5A on chromosome 3p22.2 encodes the alpha subunit of the cardiac sodium channel Nav1.5, which carries the inward sodium current...
PCSK9
PCSK9 on chromosome 1p32.3 encodes proprotein convertase subtilisin kexin type 9, a secreted protein that binds LDL receptors on l...