Gene: COBL

Alternate names for this Gene: -

Gene Summary: This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X.

Gene is located in Chromosome: 7

Location in Chromosome : 7p12.1

Description of this Gene: cordon-bleu WH2 repeat protein

Type of Gene: protein-coding

rs114659987 in COBL gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs114659987 in COBL gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.