CCL19

Chr 9

C-C motif chemokine ligand 19

Also known as: CKb11, ELC, MIP-3b, MIP3B, SCYA19

NCBI Gene: 6363 ENSG00000172724 UniProt: Q99731 OMIM: 602227

CCL19 encodes a CC chemokine that binds to chemokine receptor CCR7 and regulates lymphocyte trafficking, including T-cell and B-cell migration to secondary lymphoid organs and T-cell trafficking in the thymus. Mutations cause autosomal recessive combined immunodeficiency affecting T-cell and B-cell function. This immunodeficiency typically presents in infancy with recurrent infections due to impaired adaptive immune responses.

OMIM ResearchSummary from RefSeq, UniProt

This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. [provided by RefSeq, Sep 2014]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

255

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.13

LOEUF

Mechanism· predicted