重组选择连接蛋白32

SNX32 is a 403 amino acid protein that contains one PX (phox homology) domain and belongs to the sorting nexin family. Existing as two alternatively spliced isoforms, SNX32 may be involved in several stages of intracellular trafficking. The gene that encodes SNX32 consists of approximately 23,256 bases and maps to human chromosome 11q13.1. Housing over 1,400 genes and comprising nearly 4% of the human genome, chromosome 11 is considered a gene and disease association-dense chromosome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that map to chromosome 11. In addition, the blood disorders Sickle cell anemia and thalassemia are caused by mutations in the HBB gene, which is located on chromosome 11.