The normal and abnormal genes of the a and b subunits in coagulation factor XIII

Semin Thromb Hemost. 1996;22(5):385-91. doi: 10.1055/s-2007-999036.

Abstract

Factor XIII consists of two catalytic a and two noncatalytic b subunits. The gene for the a subunit is located on chromosome 6, the gene for the b subunit on chromosome 1. Both genes have been characterized. There are several different allelic forms of the a subunit in the normal population and some microheterogeneity for the b subunit. Most patients with congenital factor XIII deficiency lack the a subunit in plasma; few patients appear to have a complete lack of the b subunit. The genes from patients with factor XIII deficiencies were obtained and examined. Based on these analyses a new genetic classification for factor XIII deficiency is proposed: a deficiency of the a subunit (formerly termed type II), a deficiency of the b subunit (formerly known as type I), and a possible combined deficiency of both a and b subunits.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acid Sequence
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 6 / genetics
  • Factor XIII / chemistry
  • Factor XIII / genetics*
  • Factor XIII Deficiency / classification
  • Factor XIII Deficiency / genetics*
  • Female
  • Genes
  • Genotype
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation
  • Polymorphism, Genetic
  • Protein Conformation
  • RNA Splicing

Substances

  • Factor XIII