Sublocalization of the human protein C gene on chromosome 2q13?q14

Abstract

The localization of human protein C gene on chromosome 2 was investigated by in situ hybridization using a partial cDNA for protein C. Silver-grain analysis indicates that the protein C gene is located on 2q13-q14.

Factor V: a combination of Dr Jekyll and Mr Hyde

“…Human protein C is encoded by an autosomal gene of approximately 10 kb located on chromosome 2q13-14. 110,111 Absence of the protein or a defective circulating protein in plasma, which is the result of more that 160 different mutations, has severe consequences for the individuals bearing the mutations. 112 Individuals who are heterozygous for a protein C mutation, resulting in low levels of circulating protein C because one of the 2 alleles does not produce the normal protein, variably suffer from venous thrombosis.…”

Oral contraceptive induced thrombi of the right heart of a heterozygous protein C-deficient woman—a case report

“…It is a vitamin K-dependent protein synthesized in the hepatocyte and has a molecular weight of about 56,000 Da [6,7]. The gene for protein C is located on chromosome 2 (2q13-14) [8]. Protein C exerts its primary inhibitory activity by inactivating factors V and VIIIC, the two cofactors necessary for thrombin and factor Xa activation [7].…”

Protein C and protein S deficiencies: similarities and differences between two brothers playing in the same game

“…The gene for human PC (PROC) is located at the 2q13-q14 position and contains nine exons encoding for a 1.7-kb messenger RNA (mRNA) and eight introns (10,11). All the exon/intron boundaries follow the GT-AG rule.…”