CXCL12 Chromosome 10
C-X-C motif chemokine ligand 12
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What This Gene Does
This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
Chemokine ligands
Locus Type
gene with protein product
Location
10q11.21
Ensembl
ENSG00000107562
Associated Conditions (1)
Susceptibility to HIV infection
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS387906400 | Protective | protective | Susceptibility to HIV infection, Susceptibility to HIV infection |