Primary Identifier | MGI:1861431 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 56644 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables (1->3)-beta-D-glucan binding activity; (1->3)-beta-D-glucan immune receptor activity; and opsonin binding activity. Involved in several processes, including positive regulation of cytokine production; positive regulation of intracellular signal transduction; and response to fungus. Acts upstream of or within several processes, including phagocytosis; regulation of calcineurin-NFAT signaling cascade; and regulation of gene expression. Located in external side of plasma membrane. Is expressed in several structures, including gut; limb; musculature; spleen; and ventral grey horn. Human ortholog(s) of this gene implicated in aspergillosis and chronic mucocutaneous candidiasis. Orthologous to human CLEC7A (C-type lectin domain containing 7A). PHENOTYPE: Mutations in this gene result in increased susceptibility and defective inflammatory responses in response to fungal infection. [provided by MGI curators] |
specificity | A premature stop codon in the longer transcript isoform 1 makes Clec7a a non-functional allele in the C57BL/6 reference genome. The variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. |