CLEC1A

Chr 12

C-type lectin domain family 1 member A

Also known as: CLEC-1, CLEC1

NCBI Gene: 51267 ENSG00000150048 UniProt: Q8NC01

This gene encodes a C-type lectin that functions in cell adhesion, cell-cell signaling, and immune response regulation, particularly in dendritic cell function. Mutations cause increased susceptibility to aspergillosis, a fungal infection that can affect multiple organ systems including the lungs and central nervous system. The gene shows autosomal inheritance and is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, OMIM

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.93

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)