XCL1

Chr 1

X-C motif chemokine ligand 1

Also known as: ATAC, LPTN, LTN, SCM-1, SCM-1a, SCM1, SCM1A, SCYC1

NCBI Gene: 6375 ENSG00000143184 UniProt: P47992 OMIM: 600250

The encoded protein is a C-chemokine that exhibits chemotactic activity specifically for lymphocytes and mediates medullary accumulation of thymic dendritic cells, contributing to regulatory T cell development and self-tolerance establishment. This gene shows low constraint against loss-of-function variants (pLI 0.001, LOEUF 1.87), and no definitive human disease associations have been established in the provided data. The inheritance pattern for any potential disease would be expected to follow autosomal patterns given its chromosomal location.

OMIM ResearchSummary from RefSeq, UniProt

This antimicrobial gene encodes a member of the chemokine superfamily. Chemokines function in inflammatory and immunological responses, inducing leukocyte migration and activation. The encoded protein is a member of the C-chemokine subfamily, retaining only two of four cysteines conserved in other chemokines, and is thought to be specifically chemotactic for T cells. This gene and a closely related family member are located on the long arm of chromosome 1. [provided by RefSeq, Sep 2014]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.87

LOEUF

Mechanism· predicted