GeneID: 107



Names

Common Name: MBL2 Type: Gene
Chromosome: 10 (NC_000010.11) Locus: NG_008196.1 (MBL2)
HUGO Symbol: MBL2 Full Name: mannose binding lectin 2
Exons: 4 Introns: 3

Description:
The encoded protein is a mannose-binding lectin (MBL) involved in the innate immune response. It is derived from liver and secreted in plasma, where it binds sugar residues, such as mannose, fucose and N-acetylglucosamine on the surface of pathogens, leading to their opsonization and phagocytosis by specialized immune cells. This protein is able to activate the complement pathway in an antibody-independent manner via cooperation with MBL-associated serine proteases (MASP). MBL also binds and mediates clearance of apoptotic cells and cell debris. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. Polymorphisms in this gene associated with vaso-occlusive pain crisis and infection in sickle cell anemia patients.

Synonyms: MBL , COLEC1

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Takahashi K, Ezekowitz RA, The role of the mannose-binding lectin in innate immunity., Clin. Infect. Dis. , 41(0), S440-4, 2005 PubMed
  2. Oliveira MC, Mendonça TF, Vasconcelos LR, Moura P, Bezerra MA, Santos MN, Araújo AS, Cavalcanti MS, Association of the MBL2 gene EXON1 polymorphism and vasoocclusive crisis in patients with sickle cell anemia., Acta Haematol. , 121(4), 212-5, 2009 PubMed
  3. Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010 PubMed
  4. Mendonça TF, Oliveira MC, Vasconcelos LR, Pereira LM, Moura P, Bezerra MA, Santos MN, Araújo AS, Cavalcanti MS, Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia., Blood Cells Mol. Dis. , 44(4), 224-8, 2010 PubMed
Created on 2016-04-27 12:02:27, Last reviewed on 2018-06-24 15:59:28 (Show full history)


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