title: The normal and abnormal genes of the a and b subunits in coagulation factor XIII.
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.
authors.affiliation: Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ichinose
authors.forename: T
authors.initials: T
authors.lastname: Izumi
authors.forename: T
authors.initials: T
authors.lastname: Hashiguchi
mesh_terms: D000595:Amino Acid Sequence; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005176:Factor XIII / Q000737:chemistry / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000145:classification / Q000235:genetics*; D005260:Female; D005796:Genes; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011487:Protein Conformation; D012326:RNA Splicing
chemical_list: D005176:Factor XIII