VSIG4 Chromosome X
V-set and immunoglobulin domain containing 4
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What This Gene Does
This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Gene Info
Gene Group
"V-set domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
Xq12
Ensembl
ENSG00000155659
Associated Conditions (1)
VSIG4-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201236670 | Health Risk | Conflicting classifications of pathogenicity | VSIG4-related disorder, VSIG4-related disorder |