Literature summary for 5.6.1.6 extracted from

Segal, I.; Yaakov, Y.; Adler, S.N.; Blau, H.; Broide, E.; Santo, M.; Yahav, Y.; Klar, A.; Lerner, A.; Aviram, M.; Ellis, I.; Mountford, R.; Shteyer, E.; Kerem, E.; Wilschanski, M.
Cystic fibrosis transmembrane conductance regulator ion channel function testing in recurrent acute pancreatitis (2008), J. Clin. Gastroenterol., 42, 810-814.

Search for more literature for 5.6.1.6

Cloned(Commentary)

Cloned (Comment)	Organism
CFTR genotyping in the Jewish and Arab population in Israel	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
D1152H	mutation in the CFTR gene causing cystic fibrosis	Homo sapiens
additional information	mutations in the CFTR gene cause cystic fibrosis, phenotypes in the Jewish and Arab population in Israel, overview	Homo sapiens
W1282X	mutation in the CFTR gene causing cystic fibrosis	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Jewish and Arab population in Israel	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
pancreas	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	the enzyme shows ATPase and chloride channel activities	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
CFTR	-	Homo sapiens
cystic fibrosis transmembrane conductance regulator	-	Homo sapiens

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Release 2023.1 (January 2023)