Probable phospholipid-transporting ATPase IC is an
enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
that in humans is encoded by the ''ATP8B1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
This protein is associated with
progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis (PFIC) is a group of Genetic disorder, familial cholestasis, cholestatic conditions caused by defects in bile, biliary Epithelium, epithelial transporters. The clinical presentation usually occurs firs ...
type 1 as well as
benign recurrent intrahepatic cholestasis
Malignancy () is the tendency of a medical condition to become progressively worse; the term is most familiar as a characterization of cancer.
A ''malignant'' tumor contrasts with a non-cancerous ''benign'' tumor in that a malignancy is not ...
.
Function
This gene encodes a member of the
P-type cation transport ATPase family and specifically belongs to the subfamily of aminophospholipid-transporting ATPases. This protein is highly expressed in the small intestine, stomach, pancreas, and prostate and is also found in
cholangiocytes and the canalicular membranes of
hepatocytes
A hepatocyte is a cell of the main parenchymal tissue of the liver. Hepatocytes make up 80% of the liver's mass.
These cells are involved in:
* Protein synthesis
* Protein storage
* Transformation of carbohydrates
* Synthesis of cholesterol, bile ...
in the liver.
The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis.
Exactly how mutations result in these diseases is not currently understood.
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
External links
*
*
EC 7.6.2
Transmembrane proteins
{{gene-18-stub