PRB3 Chromosome 12
Proline rich protein BstNI subfamily 3
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What This Gene Does
This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the "Long" allele. The protein isoforms encoded by this gene are recognized as the "first line of oral defense" against the detrimental effects of polyphenols in the diet and pathogen infections. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
Proline rich proteins
Locus Type
gene with protein product
Location
12p13.2
Ensembl
ENSG00000197870
Associated Conditions (2)
PRB3M(NULL)
PRB3S(CYS)
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS191804141 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199658095 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS3842295 | Health Risk | Pathogenic | PRB3M(NULL), PRB3M(NULL) |
| RS71455367 | Health Risk | Pathogenic | PRB3S(CYS), PRB3S(CYS) |