GC Chromosome 4
GC vitamin D binding protein
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What This Gene Does
The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
Gene Info
Gene Group
Albuminoid family
Locus Type
gene with protein product
Location
4q13.3
Ensembl
ENSG00000145321
Associated Conditions (1)
Chronic obstructive pulmonary disease
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2475817708 | Health Risk | Pathogenic | Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease |