Gene: PROZ

Alternate names for this Gene: PZ

Gene 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q34

Description of this Gene: protein Z, vitamin K dependent plasma glycoprotein

Type of Gene: protein-coding

Gene: PCID2

Alternate names for this Gene: F10

Gene Summary: This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 13

Location in Chromosome : 13q34

Description of this Gene: PCI domain containing 2

Type of Gene: protein-coding

rs3024739 in PROZ;PCID2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.