GENE REFERENCE / HGNC:388

AKR1D1

aldo-keto reductase family 1 member D1

protein-coding gene7q33Gene information

What does this gene do?

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.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2015-04.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
congenital bile acid synthesis defect 2MONDO:0009339 · Evaluated 2024-09-27	Autosomal recessive	DefinitiveGeneral Inborn Errors of Metabolism Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 293
Submissions for variants in or overlapping this gene: 413
Submissions explicitly reporting this gene: 360
Alleles reported pathogenic / likely pathogenic: 32
VariationIDs with uncertain significance: 137
VariationIDs with conflicting classifications: 12

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about AKR1D1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 32 alleles in AKR1D1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in AKR1D1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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