PSG6 Chromosome 19

Pregnancy specific beta-1-glycoprotein 6
1 variant 1 Health Risk

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What This Gene Does
This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
"V-set domain containing|Pregnancy specific glycoproteins"
Locus Type
gene with protein product
Location
19q13.31
Ensembl
ENSG00000170848
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS147725300 Health Risk Conflicting classifications of pathogenicity
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