Cystic fibrosis transmembrane conductance regulator (
CFTR) is a
protein that in humans is encoded by the
CFTR gene.
CFTR is a
ABC transporter-class
ion channel that transports
chloride and
thiocyanate 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.
Gene
The gene that encodes the CFTR protein is found on the
human chromosome 7, on the long arm at position q31.2. from
base pair 116,907,253 to base pair 117,095,955. CFTR
orthologs have also been identified in all
mammals for which complete genome data are available.
The
CFTR gene has been used in animals as a
nuclear DNA phylogenetic marker. Large genomic sequences of this gene have been used to explore the phylogeny of the major groups of
mammals, and confirmed the grouping of
placental orders into four major clades:
Xenarthra,
Afrotheria,
Laurasiatheria, and
Euarchonta plus
Glires.
Mutations
Well over one thousand
mutations have been described that can affect the CFTR gene. Such mutations can cause two genetic disorders,......
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