Ontology highlight
ABSTRACT:
SUBMITTER: Wedenoja S
PROVIDER: S-EPMC5660164 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Scientific reports 20171027 1
Chloride absorption and bicarbonate excretion through exchange by the solute carrier family 26 member 3 (SLC26A3) and cystic fibrosis transmembrane conductance regulator (CFTR) are crucial for many tissues including sperm and epithelia of the male reproductive tract. Homozygous SLC26A3 mutations cause congenital chloride diarrhea with male subfertility, while homozygous CFTR mutations cause cystic fibrosis with male infertility. Some homozygous or heterozygous CFTR mutations only manifest as mal ...[more]