CLCA1

Description

The CLCA1 (chloride channel accessory 1) is a protein-coding gene located on chromosome 1.

CLCA1 is a protein encoded by the CLCA1 gene in humans. It belongs to the calcium-sensitive chloride conductance protein family, sharing homology with other members in size, sequence, and predicted structure but differing in tissue distribution. CLCA1 is expressed as a precursor protein that is processed into two cell-surface-associated subunits. The precise site of cleavage is unknown. It may be involved in mediating calcium-activated chloride conductance in the intestine. Protein structure prediction suggests the N-terminal region of CLCA1 is a zinc metalloprotease.

CLCA1 may mediate calcium-activated chloride conductance. It may be involved in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis, and asthma. It may regulate mucus production and/or secretion by goblet cells, contribute to tissue inflammation in the innate immune response, and act as a tumor suppressor. It induces MUC5AC.

CLCA1 is also known as CACC, CACC1, CLCRG1, CaCC-1, GOB5, hCLCA1, hCaCC-1.

Associated Diseases

• idiopathic CD4 lymphocytopenia
• isolated agammaglobulinemia
• immunodeficiency 53
• immunodeficiency 51
• combined immunodeficiency due to moesin deficiency
• primary ciliary dyskinesia
• agammaglobulinemia 7, autosomal recessive
• ciliary dyskinesia, primary, 48, without situs inversus
• colorectal cancer
• immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia