ICA1
Description
The ICA1 (islet cell autoantigen 1) is a protein-coding gene located on chromosome 7.
ICA1 encodes a protein with an arfaptin homology domain that is found both in the cytosol and as a membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjรถgren's syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.
May play a role in neurotransmitter secretion.
ICA1 is also known as ICA69, ICAp69.
Associated Diseases
- schizophrenia
- hepatorenocardiac degenerative fibrosis
- autosomal systemic lupus erythematosus type 16
- type 1 diabetes mellitus
- diabetes mellitus, transient neonatal, 3
- autoimmune lymphoproliferative syndrome
- familial visceral myopathy
