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

GALC (Galactosylceramidase)

Loading...

Summary of GALC

The gene codes for a protein, galactosylceramidase. Mutations are linked to Krabbe disease [R].

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

The Function of GALC

Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon.

Protein names

Recommended name:

Galactocerebrosidase

Alternative name(s):

GALCERase
Galactocerebroside beta-galactosidase
Galactosylceramidase
Galactosylceramide beta-galactosidase

GALC SNPs

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

  1. RS421262 (GALC) ??
  2. RS4322600 (GALC) ??
  3. RS55808324 (GALC) ??
  4. RS7140285 (GALC) ??

Top Gene-Substance Interactions

Substances That Increase GALC

Substances Interaction Organism Category

Substances That Decrease GALC

Substances Interaction Organism Category

Advanced Summary

     Krabbe disease More than 70 GALC gene mutations that cause Krabbe disease have been identified. The most common mutation in affected individuals of European ancestry deletes a large segment of the GALC gene (written as 30-kb del). Other mutations insert additional DNA building blocks (base pairs) into the GALC gene, delete a small number of base pairs from the gene, or replace a single base pair with an incorrect base pair. These mutations severely reduce the activity of the galactosylceramidase enzyme. As a result, certain galactolipids such as galactosylceramide and psychosine cannot be broken down and accumulate in cells that make myelin. Research suggests that psychosine accumulation is toxic and damages myelin-producing cells, causing the loss of myelin. Without myelin, nerves in the brain and other parts of the body cannot function properly, leading to the signs and symptoms of Krabbe disease. Some individuals with late-onset Krabbe disease have a particular mutation in one of the two copies of the GALC gene in each cell. This mutation replaces one of the building blocks (amino acids) used to make the galactosylceramidase enzyme. Specifically, the amino acid glycine is replaced with the amino acid aspartic acid at position 270 in the enzyme (written as Gly270Asp or G270D). The second copy of the GALC gene usually has a different mutation, such as the large 30-kb deletion. The Gly270Asp mutation probably allows some activity of the galactosylceramidase enzyme, which delays onset of the disease.

     The GALC gene provides instructions for making an enzyme called galactosylceramidase. Through a process called hydrolysis, this enzyme uses water molecules to break down certain fats called galactolipids, which are found primarily in the brain and kidneys. Within cells, galactosylceramidase is found in enzyme-filled sacs called lysosomes where it hydrolyzes specific galactolipids, including galactosylceramide and psychosine. Galactosylceramide is an important component of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Psychosine forms during the production of myelin, and then it breaks down with help of galactosylceramidase. Under normal conditions, tissues contain very little psychosine.

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:

  • c-Myc

Tissue specificity:

Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.

Gene Pathways:

  • Metabolic pathways
  • Metabolism
  • Lysosome
  • Sphingolipid metabolism

Caution:

It is uncertain whether Met-1 or Met-17 is the initiator.

Molecular Function:

  • Galactosylceramidase Activity

Biological Processes:

  • Carbohydrate Metabolic Process
  • Galactosylceramide Catabolic Process
  • Glycosphingolipid Metabolic Process
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| A306_03359| Anapl_16838| AS27_04528| AS28_13616| casein kinase 2, beta polypeptide pseudogene| CB1_001421002| D623_10022334| Gacy| Galactocerebrosidase| Galactocerebrosidase-like protein| galactocerebroside beta-galactosidase| galactosylceramidase (Krabbe disease)| galactosylceramide beta-galactosidase| galactosylceraminidase| GALCERase| H920_20339| I79_001290| M91_03423| MDA_GLEAN10015688| N300_00545| N302_00052| N303_08041| N306_04548| N307_08458| N310_03913| N312_05385| N320_11013| N324_02127| N326_07550| N329_02761| N330_04918| N331_06433| N332_09759| N333_06877| N334_01340| N336_06416| N339_05872| N340_12774| PAL_GLEAN10020731| PANDA_016668| testis tissue sperm-binding protein Li 88E| testis tissue sperm-binding protein Li 89A| TREES_T100001303| twi| twitcher| UY3_03354| Y1Q_003459| Y956_05736| galc

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