Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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C-Typ Lectin-Domän-Protein Familie 7 Member A

Das CLEC7A-Gen kodiert eine C-Typ Lectin-Protein, welches auch als Dectin-1 bekannt ist und und beta-Glucan bindet, welches Bestandteil vieler pathogener Pilze ist. Es ist damit ein wichtiger Pathogen-Pattern-Rezeptor der angeborenen Immunität. Entsprechend führt ein Mangel dieses Enzyms zu schweren Pilzinfektionen.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Aspergillose-Infektionsanfälligkeit
CLEC1A
CLEC7A
Familiäre Candidose 4
CLEC7A

Referenzen:

1.

von Bernuth H et al. (2008) Pyogenic bacterial infections in humans with MyD88 deficiency.

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2.

Lefèvre L et al. (2013) The C-type lectin receptors dectin-1, MR, and SIGNR3 contribute both positively and negatively to the macrophage response to Leishmania infantum.

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3.

Iliev ID et. al. (2012) Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis.

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4.

Gringhuis SI et al. (2012) Dectin-1 is an extracellular pathogen sensor for the induction and processing of IL-1β via a noncanonical caspase-8 inflammasome.

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5.

Lee HM et al. (2012) Mycobacterium abscessus activates the NLRP3 inflammasome via Dectin-1-Syk and p62/SQSTM1.

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6.

Goodridge HS et al. (2011) Activation of the innate immune receptor Dectin-1 upon formation of a 'phagocytic synapse'.

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7.

Cunha C et al. (2010) Dectin-1 Y238X polymorphism associates with susceptibility to invasive aspergillosis in hematopoietic transplantation through impairment of both recipient- and donor-dependent mechanisms of antifungal immunity.

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8.

Maródi L et al. (2010) Dectin-1 deficiency and mucocutaneous fungal infections.

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9.

Ferwerda B et al. (2009) Human dectin-1 deficiency and mucocutaneous fungal infections.

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10.

Glocker EO et al. (2009) A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

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11.

Hise AG et al. (2009) An essential role for the NLRP3 inflammasome in host defense against the human fungal pathogen Candida albicans.

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12.

Manicassamy S et al. (2009) Toll-like receptor 2-dependent induction of vitamin A-metabolizing enzymes in dendritic cells promotes T regulatory responses and inhibits autoimmunity.

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13.

Ku CL et al. (2007) IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.

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14.

Taylor PR et al. (2007) Dectin-1 is required for beta-glucan recognition and control of fungal infection.

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15.

Saijo S et al. (2007) Dectin-1 is required for host defense against Pneumocystis carinii but not against Candida albicans.

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16.

Xie J et al. (2006) Human Dectin-1 isoform E is a cytoplasmic protein and interacts with RanBPM.

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17.

Gross O et al. (2006) Card9 controls a non-TLR signalling pathway for innate anti-fungal immunity.

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18.

Brown GD et al. (2003) Dectin-1 mediates the biological effects of beta-glucans.

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19.

Willment JA et al. (2001) Characterization of the human beta -glucan receptor and its alternatively spliced isoforms.

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20.

Brown GD et al. (2001) Immune recognition. A new receptor for beta-glucans.

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21.

Hermanz-Falcón P et al. () Cloning of human DECTIN-1, a novel C-type lectin-like receptor gene expressed on dendritic cells.

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22.

Yokota K et al. (2001) Identification of a human homologue of the dendritic cell-associated C-type lectin-1, dectin-1.

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23.

Ariizumi K et al. (2000) Identification of a novel, dendritic cell-associated molecule, dectin-1, by subtractive cDNA cloning.

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Update: 14. August 2020
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