What is the official name of the AKR1D1 gene?
The official name of this gene is “aldo-keto reductase family 1, member D1.”
AKR1D1 is the gene's official symbol. The AKR1D1 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 AKR1D1 gene?
The AKR1D1 gene provides instructions for making an enzyme called 3-oxo-5-beta(β)-steroid 4-dehydrogenase. This enzyme is found in liver cells. It participates in the production of bile acids, which are a component of a digestive fluid called bile. Bile acids stimulate bile flow and helps absorb fats and fat-soluble vitamins. Bile acids are produced from cholesterol in a multi-step process. The 3-oxo-5-β-steroid 4-dehydrogenase enzyme is responsible for the third step in that process, which converts 7alpha(α)-hydroxy-4-cholesten-3-one to 7α-hydroxy-5β-cholesten-3-one.
How are changes in the AKR1D1 gene related to health conditions?
- congenital bile acid synthesis defect type 2 - caused by mutations in the AKR1D1 gene
- More than 10 mutations in the AKR1D1 gene have been found to cause congenital bile acid synthesis defect type 2. This condition is characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Most of the AKR1D1gene mutations replace single protein building blocks (amino acids) in the enzyme. These mutations result in production of a 3-oxo-5-β-steroid 4-dehydrogenase enzyme with severely reduced function. Without enough functional enzyme, the conversion of 7α-hydroxy-4-cholesten-3-one to 7α-hydroxy-5β-cholesten-3-one is impaired. The 7α-hydroxy-4-cholesten-3-one instead gets converted into abnormal bile acid compounds that cannot be transported out of the liver into the intestine, where the bile acids are needed to digest fats. This impaired production and release of bile acids leads to cholestasis. As a result, cholesterol and abnormal bile acids build up in the liver and fat-soluble vitamins are not absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 2.
Where is the AKR1D1 gene located?
Cytogenetic Location: 7q32-q33
Molecular Location on chromosome 7: base pairs 138,076,431 to 138,118,303
The AKR1D1 gene is located on the long (q) arm of chromosome 7 between positions 32 and 33.
More precisely, the AKR1D1 gene is located from base pair 138,076,431 to base pair 138,118,303 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about AKR1D1?
You and your healthcare professional may find the following resources about AKR1D1 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 AKR1D1 gene or gene products?
- 3-oxo-5-beta-steroid 4-dehydrogenase
- delta 4-3-ketosteroid-5-beta-reductase
- delta(4)-3-ketosteroid 5-beta-reductase
- delta(4)-3-oxosteroid 5-beta-reductase
- steroid 5-beta-reductase
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.
- What is DNA?
- What is a gene?
- How do genes direct the production of proteins?
- How can gene mutations affect health and development?
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding AKR1D1?
acids ; bile ; cholesterol ; congenital ; dehydrogenase ; digestive ; enzyme ; gene ; intestine ; protein ;soluble ; synthesis ; vitamins
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 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