GALC, Galactosylceramidase ,j onka. mutaatio aiheuttaa Krabben ja Fabryn tautia

https://www.genecards.org/Search/Keyword?queryString=GALC

• GeneCards Symbol: GALC 2 
• Galactosylceramidase 2 3 4 5
• Galactocerebroside Beta-Galactosidase 3 4
• Galactosylceramide Beta-Galactosidase 3 4
• Galactocerebrosidase 3 4
• EC 3.2.1.46 4 47

• GALCERase 3 4
• Testis Tissue Sperm-Binding Protein Li 88E 3
• Testis Tissue Sperm-Binding Protein Li 89A 3
• Galactosylceramidase (Krabbe Disease) 2
• Galactosylceraminidase 3
• Krabbe Disease 2

Family

Domains

Gene Families for GALC Gene

HGNC:

• Glycoside hydrolase family

The Human Protein Atlas (HPA):

• Disease related genes
 
• Enzymes
 
• Human disease related genes
 
• Metabolic proteins
 
• Plasma proteins
 
• Potential drug targets
 
• Predicted intracellular proteins
 
• Predicted membrane proteins

Protein Domains for GALC Gene

InterPro:

• Glycoside_hydrolase_SF 
 
• Aldolase_TIM 
 
• GH59_C 
 
• GH59_cat 
 
• Glyco_hydro_59 
 
• Glyco_hydro_59_dom 
• See less «

Blocks:

• Glycosyl hydrolase family 59 signature

Suggested Antigen Peptide Sequences for GALC Gene

GenScript: Design optimal peptide antigens:

• Galactosylceramide beta-galactosidase (GALC_HUMAN)
 
• Galactocerebrosidase (O95953_HUMAN)
  
  
  
  details:
  GLYCO_HYDRO-59-DOMAIN
  
  

  description

  This entry represents the central domain of the glycosyl hydrolase family 59 members.

  ---

  Glycoside hydrolase family 59 

  GH59

   comprises enzymes with only one known activity; galactocerebrosidase (

  3.2.1.46

  ).

  
  

  Globoid cell leukodystrophy (Krabbe disease) is a severe, autosomal recessive disorder that results from deficiency of galactocerebrosidase (GALC) activity 

  [3, 1, 2]

  . GALC is responsible for the lysosomal catabolism of certain galactolipids, including galactosylceramide and psychosine 

  [3]

  .