GeneID: 211



Names

Common Name: FUCA2 Type: Gene
Chromosome: 6 (NC_000006.12) Locus: NG_027676.1 (FUCA2)
HUGO Symbol: FUCA2 Full Name: fucosidase, alpha-L- 2, plasma
Exons: 7 Introns: 6

Description:
This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. Fucosylated proteins are involved in a variety of processes, including immune response, signal transduction, embryogenesis and development, apoptosis, adhesion, and extravasation of leukocytes. Defective production of fucosylated glycans has been oberved in pathological conditions, such as atherosclerosis and cancer. Mutations in this gene have been associated with myocardial diastolic dysfunction in patients with sickle cell disease.

Synonyms: dJ20N2.5 , MGC1314

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Intra J, Perotti ME, Pavesi G, Horner D, Comparative and phylogenetic analysis of alpha-L-fucosidase genes., Gene , 392(1), 34-46, 2007 PubMed
  2. Duarte JD, Desai AA, Sysol JR, Abbasi T, Patel AR, Lang RM, Gupta A, Garcia JG, Gordeuk VR, Machado RF, Genome-Wide Analysis Identifies IL-18 and FUCA2 as Novel Genes Associated with Diastolic Function in African Americans with Sickle Cell Disease., PLoS ONE , 11(9), e0163013, 2016 PubMed
Created on 2017-02-14 11:14:36, Last reviewed on 2017-02-14 11:15:32 (Show full history)


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