Gene Symbol | PROZ |
Entrez Gene ID | 8858 |
Full Name | protein Z, vitamin K dependent plasma glycoprotein |
Synonyms | PZ |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | [Protein Z deficiency], 614024 (3) |