• Navigation
  • Register My DNA Kit
  • Features
  • Pricing
  • FAQ
  • About
  • Labs
  • Login
  • Get started
  1. Home
  2. Genes
  3. AMACR

AMACR (Alpha-methylacyl-CoA racemase)

Loading...

The Function of AMACR

Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.

0 users want this gene increased, 0 users want it decreased

Protein names

Recommended name:

Alpha-methylacyl-CoA racemase

Alternative name(s):

2-methylacyl-CoA racemase

AMACR SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS10941112 (AMACR) ??
  2. RS2278008 (AMACR) ??
  3. RS2287939 (AMACR) ??
  4. RS3195676 (AMACR) ??
  5. RS34677 (AMACR) ??

Top Gene-Substance Interactions

AMACR Interacts with These Diseases

Disease Score

Substances That Increase AMACR

Substances Interaction Organism Category

Substances That Decrease AMACR

Substances Interaction Organism Category

Advanced Summary

     alpha-methylacyl-CoA racemase deficiency Alpha-methylacyl-CoA racemase (AMACR) deficiency is caused by mutations in the AMACR gene. This disorder leads to a variety of neurological problems that begin in adulthood, including gradual loss in intellectual functioning (cognitive decline), seizures, and weakness and loss of sensation in the limbs due to nerve damage (sensorimotor neuropathy). Most individuals with AMACR deficiency have an AMACR gene mutation that replaces a protein building block (amino acid) called serine with an amino acid called proline at position 52 in the enzyme sequence, written as Ser52Pro or S52P. This mutation results in a lack (deficiency) of functional enzyme. The enzyme deficiency leads to accumulation of pristanic acid in the blood. However, it is unclear how this accumulation is related to the specific signs and symptoms of AMACR deficiency. other disorders AMACR gene mutations that result in a lack of functional AMACR enzyme have also been identified in infants with a life-threatening disorder called congenital bile acid synthesis defect type 4. Babies with this disorder have cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to an enlarged liver (hepatomegaly) and irreversible liver disease (cirrhosis) in the first few months of life. Some researchers consider congenital bile acid synthesis defect type 4 and AMACR deficiency (see above) to be variations of the same disorder. Because most individuals with congenital bile acid synthesis defect type 4 do not survive infancy, it is unclear whether they would have later developed the neurological symptoms seen in adults with AMACR deficiency.

     The AMACR gene provides instructions for making an enzyme called alpha-methylacyl-CoA racemase (AMACR). This enzyme is found in the energy-producing centers in cells (mitochondria) and in cell structures called peroxisomes. Peroxisomes contain a variety of enzymes that break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production (synthesis) of fats (lipids) used in digestion and in the nervous system. In peroxisomes, the AMACR enzyme plays a role in the breakdown of a fatty acid called pristanic acid, which comes from meat and dairy foods in the diet. In mitochondria, AMACR is thought to help further break down the molecules derived from pristanic acid.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • AhR
  • PPAR-alpha
  • C/EBPbeta
  • FOXO1a
  • FOXO1

Gene Pathways:

  • Metabolic pathways
  • Metabolism
  • Peroxisome
  • Primary bile acid biosynthesis

Molecular Function:

  • Alpha-Methylacyl-Coa Racemase Activity
  • Receptor Binding

Biological Processes:

  • Bile Acid Biosynthetic Process
  • Bile Acid Metabolic Process
  • Fatty Acid Beta-Oxidation Using Acyl-Coa Oxidase
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| 2-arylpropionyl-CoA epimerase| 2-methylacyl-CoA racemase| Alpha-methylacyl-CoA racemase-like protein| alpha-methylacyl-Coenzyme A racemase| AMACRD| Anapl_14420| AS27_01142| AS28_06715| C1q and tumor necrosis factor related protein 3| c1qtnf3| CB1_033176010| CBAS4| Da1-8| GW7_18469| M959_07472| Macr1| Marc1| MDA_GLEAN10023519| N300_07130| N301_10905| N302_10486| N303_09114| N305_06095| N306_15444| N307_03376| N308_09850| N309_03942| N310_03502| N320_01890| N325_11634| N326_09607| N328_08532| N329_11403| N332_05618| N333_11177| N335_13971| N336_04261| N339_04912| N340_01938| PANDA_008113| RACE| RM| TREES_T100020867| Y1Q_026848| Y956_15374| Z169_13280| amacr

Policies

  • Terms of Service
  • Platform Consent
  • Privacy Policy
  • Disclaimer

About

  • Customer Support
  • Our Team
  • Affiliate Program

Navigation

  • Homepage
  • DNA Wellness Reports
  • Personalized Genetics Blog
  • Register your DNA Test Kit
  • Login
  • Careers
GET STARTED
  • SelfDecode is a personalized health report service, which enables users to obtain detailed information and reports based on their genome. SelfDecode does not treat, diagnose or cure any conditions, but is for informational and educational purposes alone.
SelfDecode © 2021 All Rights Reserved