AKR1C4

aldo-keto reductase family 1 member C4

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14.

provided by RefSeq

Biological Domains

Lipid Metabolism, Mitochondrial Metabolism

Pharos Class

Tchem

Also known as

ENSG00000198610 (Ensembl Release 115)

UNIPROTKB P17516

3-alpha-HSD, C11, CDR, CHDR, DD-4, DD4, HAKRA

Summary of Evidence

This tab shows an overview of how the selected gene is associated with AD.

  • Genetic Association with LOAD

    Indicates whether or not this gene shows significant genetic association with Late Onset AD (LOAD) based on evidence from multiple studies compiled by the ADSP Gene Verification Committee
    False

  • Brain eQTL

    Indicates whether or not this gene locus has a significant expression Quantitative Trait Locus (eQTL) based on an AMP-AD consortium study
    False

  • RNA Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    No data

  • Protein Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential protein expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    No data

  • Nominated Target

    Indicates whether or not this gene has been submitted as a nominated target to Agora.
    False

AD Risk Scores

About AD Risk Scores

The TREAT-AD Center at Emory-Sage-SGC has developed a Target Risk Score (TRS) to objectively rank the potential involvement of specific genes in AD. The TRS is derived by summing two component risk scores, the Genetic Risk Score and the Multi-omic Risk Score, each of which is derived from a meta-analysis of multiple harmonized data sets. More information about the methodology used to define these risk scores is available here.

AD Risk Scores for AKR1C4

The TRS for AKR1C4, along with the component Genetic and Multi-omic Risk Scores, is shown here. The scores for AKR1C4 are superimposed on the genome-wide score distributions. If No Data is Currently Available is displayed for a score, that score was not calculated for AKR1C4.

Biological Domain Classification

About Biological Domains

A biological domain represents a standardized area of biology defined by a set of discrete, biologically coherent GO terms. The TREAT-AD Center at Emory-Sage-SGC has defined nineteen biological domains associated with AD, and objectively mapped genes to those biological domains using GO term annotations. More information about the methodology used to define AD biological domains, and to generate genome-wide biological domain mappings, is available here.

Biological Domains for AKR1C4

Select a biological domain on the left to see the list of GO terms that link AKR1C4 to it on the right. The percentage value displayed next to the currently selected biological domain indicates the proportion of AKR1C4's total unique GO terms that map to the biological domain. The ratio displayed on the right indicates how many of the biological domain's total GO terms AKR1C4 is annotated with.