PROZ Chromosome 13

Protein Z, vitamin K dependent plasma glycoprotein
1 variant 1 Trait

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What This Gene Does
This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Gla domain containing
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000126231
Associated Conditions (1)
Protein Z deficiency
All Variants (1)
RSID Category Clinical Significance Conditions
RS3024778 Trait Affects Protein Z deficiency, Protein Z deficiency
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