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Reviewed April 2012
What is the official name of the ATP8B1 gene?
The official name of this gene is “ATPase, aminophospholipid transporter, class I, type 8B, member 1.”
ATP8B1 is the gene's official symbol. The ATP8B1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the ATP8B1 gene?
The ATP8B1 gene (also known as FIC1) provides instructions for making a protein that is found throughout the body. It is thought to control the distribution of certain fat molecules known as aminophospholipids on the inner surface of liver cell membranes. Based on this role, the ATP8B1 protein is sometimes known as an aminophospholipid translocase. In particular, this protein performs its function in the membranes of liver cells that transport fat-digesting acids called bile acids into bile, and it likely plays a role in maintaining an appropriate balance of bile acids. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells.
Does the ATP8B1 gene share characteristics with other genes?
The ATP8B1 gene belongs to a family of genes called ATP (ATPases).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the ATP8B1 gene related to health conditions?
Where is the ATP8B1 gene located?
Cytogenetic Location: 18q21.31
Molecular Location on chromosome 18: base pairs 57,646,425 to 57,803,821
The ATP8B1 gene is located on the long (q) arm of chromosome 18 at position 21.31.
More precisely, the ATP8B1 gene is located from base pair 57,646,425 to base pair 57,803,821 on chromosome 18.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ATP8B1?
You and your healthcare professional may find the following resources about ATP8B1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the ATP8B1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ATP8B1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.