“Vitamin-K Coagulation Defect”, Victor McKusick, Mendelian Inheritance in Man, 1966. 维生素K凝血缺陷。(VKCFD).

Here I present: “Vitamin-K Coagulation Defect”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 维生素K凝血缺陷。(VKCFD).

INTRODUCTION.

Gamma-glutamyl carboxylase (GGCX) is an enzyme (Enzyme Commission number EC# 4.1.1.90) that catalyzes the posttranslational modification of vitamin K-dependent proteins. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis.

The enzyme can use various vitamin-K derivatives, including menaquinol, but does not contain iron. The mechanism appears to involve the generation of a strong base by oxygenation of vitamin K.  It catalyses the post-translational carboxylation of glutamate residues of several proteins of the blood-clotting system.

There is evidence the deficiency of vitamin K-dependent clotting factors type-1 (VKCFD1) is caused by homozygous or compound heterozygous mutation in the gene encoding gamma-glutamyl carboxylase (GGCX) on cytogenetic location 2p11.2 and genomic coordinates 2:85,544,720-85,561,493 . The screenshot of the GGCX gene 16,774 bp  (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides GGCX in the 2p11.2 cytogenetic location are listed BENEATH.