Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases, such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD47 is an 168 amino acid coiled-coil protein that contains five ANK repeats and exists as two alternatively spliced isoforms. Conserved in chimpanzee, dog, cow, mouse and rat, ANKRD47 is expressed in breast, liver, lung, skeletal muscle and kidney. ANKRD47 assists in the formation of actin stress fibers and is encoded by a gene that maps to human chromosome 19p13.2. Chromosome 19 makes up over 2% of the human genome and contains approximately 63 million bases, which encode over 1,400 genes. Recognized for having the greatest gene density of all human chromosomes, chromosome 19 is linked to Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes
Similarity:
Contains 5 ANK repeats.
SWISS:
Q5T7N3
Gene ID:
163782
Database links:
Entrez Gene: 163782 Human
Omim: 614612 Human
SwissProt: Q5T7N3 Human
Unigene: 283398 Human
|
|
