A pattern of inheritance in which both copies of an autosomal gene must be abnormal for a genetic condition or disease to occur. An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes. When both parents have one abnormal copy of the same gene, they have a 25% chance with each pregnancy that their offspring will have the disorder.

Cystic fibrosis transmembrane conductance regulator (CFTR) is a protein[1] that in humans is encoded by the CFTR gene.

CFTR is an ABC transporter-class ion channel that transports chloride and thiocyanate[3] ions across epithelial cell membranes. Mutations of the CFTR gene affect functioning of the chloride ion channels in these cell membranes, leading to cystic fibrosis and congenital absence of the vas deferens.

Autosomal Recessive Pattern

CTFR gene