Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

fibrinogen gamma chain

The FGG gene encodes the gamma component of fibrinogen. Mutations cause various recessive or dominant disorders of bleeding or recurrent thrombosis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Afibrinogenemia
FGA
FGB
FGG
Dysfibrinogenemia
FGA
FGB
FGG

References:

1.

Crabtree GR et al. (1982) Organization of the rat gamma-fibrinogen gene: alternative mRNA splice patterns produce the gamma A and gamma B (gamma ') chains of fibrinogen.

external link
2.

Ebert RF et al. (1988) Fibrinogen Baltimore III: congenital dysfibrinogenemia with a shortened gamma-subunit.

external link
3.

Yoshida N et al. (1988) An apparently higher molecular weight gamma-chain variant in a new congenital abnormal fibrinogen Tochigi characterized by the replacement of gamma arginine-275 by cysteine.

external link
4.

Reber P et al. (1986) Three abnormal fibrinogen variants with the same amino acid substitution (gamma 275 Arg----His): fibrinogens Bergamo II, Essen and Perugia.

external link
5.

Reber P et al. (1986) Characterization of fibrinogen Milano I: amino acid exchange gamma 330 Asp----Val impairs fibrin polymerization.

external link
6.

Yoshida N et al. (1986) A lower molecular weight gamma-chain variant in a congenital abnormal fibrinogen (Kyoto).

external link
7.

Ebert RF et al. (1985) Fibrinogen Baltimore IV: congenital dysfibrinogenemia with delayed fibrin monomer polymerization.

external link
8.

Budzynski AZ et al. (1974) Defect in the gamma polypeptide chain of a congenital abnormal fibrinogen (Paris I).

external link
9.

Fornace AJ et al. (1984) Structure of the human gamma-fibrinogen gene. Alternate mRNA splicing near the 3' end of the gene produces gamma A and gamma B forms of gamma-fibrinogen.

external link
10.

Hawiger J et al. (1982) gamma and alpha chains of human fibrinogen possess sites reactive with human platelet receptors.

external link
11.

Brook JG et al. (1983) Fibrinogen "Haifa" - a new fibrinogen variant. A case report.

external link
12.

Matsuda M et al. (1983) "Fibrinogen Tokyo II". An abnormal fibrinogen with an impaired polymerization site on the aligned DD domain of fibrin molecules.

external link
13.

Bolliger-Stucki B et al. (2001) Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, Aalpha R16C and gamma G165R.

external link
14.

Mosesson MW et al. (1995) The role of fibrinogen D domain intermolecular association sites in the polymerization of fibrin and fibrinogen Tokyo II (gamma 275 Arg-->Cys).

external link
15.

Rosenberg JB et al. (1993) Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain.

external link
16.

Okumura N et al. (1996) Fibrinogen Matsumoto I: a gamma 364 Asp>His (GAT>CAT) substitution associated with defective fibrin polymerization.

external link
17.

Okumura N et al. (1997) Severely impaired polymerization of recombinant fibrinogen gamma-364 Asp --> His, the substitution discovered in a heterozygous individual.

external link
18.

Asselta R et al. (2000) Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation.

external link
19.

Margaglione M et al. (2000) A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing.

external link
20.

Lounes KC et al. (2000) Fibrinogen Alès: a homozygous case of dysfibrinogenemia (gamma-Asp(330)-->Val) characterized by a defective fibrin polymerization site "a".

external link
21.

Mullin JL et al. (2002) Fibrinogen Hillsborough: a novel gammaGly309Asp dysfibrinogen with impaired clotting.

external link
22.

Keller MA et al. (2005) Fibrinogen Philadelphia, a hypodysfibrinogenemia characterized by abnormal polymerization and fibrinogen hypercatabolism due to gamma S378P mutation.

external link
23.

Liu W et al. (2006) Fibrin fibers have extraordinary extensibility and elasticity.

external link
24.

Spena S et al. (2007) Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia.

external link
25.

Yamazumi K et al. (1988) Normal plasmic cleavage of the gamma-chain variant of "fibrinogen Saga" with an Arg-275 to His substitution.

external link
26.

Martinez J et al. (1974) Fibrinogen Philadelphia. A hereditary hypodysfibrinogenemia characterized by fibrinogen hypercatabolism.

external link
27.

Kant JA et al. (1985) Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion.

external link
28.

Beck EA et al. (1965) A new inherited coagulation disorder caused by an abnormal fibrinogen ('fibrinogen Baltimore').

external link
29.

Olaisen B et al. (1982) Fibrinogen gamma chain locus is on chromosome 4 in man.

external link
30.

Wassel CL et al. (2011) Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).

external link
31.

Haverkate F et al. (1995) Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen.

external link
32.

Brown CH et al. (1975) Defective alpha-polymerization in the conversion of fibrinogen Baltimore to fibrin.

external link
33.

Mosesson MW et al. (1976) Studies on the structural abnormality of fibrinogen Paris I.

external link
34.

Yoshida N et al. (1992) Heterozygous abnormal fibrinogen Osaka III with the replacement of gamma arginine-275 by histidine has an apparently higher molecular weight gamma-chain variant.

external link
35.

Castaman G et al. (1992) Failure of DDAVP to shorten the prolonged bleeding time of two patients with congenital afibrinogenemia.

external link
36.

Yoshida N et al. (1992) Characterization of an abnormal fibrinogen Osaka V with the replacement of gamma-arginine 375 by glycine. The lack of high affinity calcium binding to D-domains and the lack of protective effect of calcium on fibrinolysis.

external link
37.

Koopman J et al. (1991) A congenitally abnormal fibrinogen (Vlissingen) with a 6-base deletion in the gamma-chain gene, causing defective calcium binding and impaired fibrin polymerization.

external link
38.

Bantia S et al. (1990) Fibrinogen Baltimore I: polymerization defect associated with a gamma 292Gly--Val (GGC--GTC) mutation.

external link
39.

Bantia S et al. (1990) Polymerization defect of fibrinogen Baltimore III due to a gamma Asn308----Ile mutation.

external link
40.

Yamazumi K et al. (1989) A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi.

external link
41.

Siebenlist KR et al. (1989) The polymerization of fibrin prepared from fibrinogen Haifa (gamma 275Arg----His).

external link
42.

Schmelzer CH et al. (1989) Fibrinogen Baltimore IV: congenital dysfibrinogenemia with a gamma 275 (Arg----Cys) substitution.

external link
43.

Fernández FJ et al. (1989) Fibrinogen Sevilla, a congenital dysfibrinogenemia characterized by an abnormal monomer aggregation and a defective plasmin lysis.

external link
44.

Miyata T et al. (1989) Fibrinogen Nagoya, a replacement of glutamine-329 by arginine in the gamma-chain that impairs the polymerization of fibrin monomer.

external link
45.

Terukina S et al. (1989) Fibrinogen Kyoto III: a congenital dysfibrinogen with a gamma aspartic acid-330 to tyrosine substitution manifesting impaired fibrin monomer polymerization.

external link
46.

Terukina S et al. (1988) Substitution of gamma Arg-275 by Cys in an abnormal fibrinogen, "fibrinogen Osaka II". Evidence for a unique solitary cystine structure at the mutation site.

external link
47.

Yoshida N et al. (1988) Characterization of an apparently lower molecular weight gamma-chain variant in fibrinogen Kyoto I. The replacement of gamma-asparagine 308 by lysine which causes accelerated cleavage of fragment D1 by plasmin and the generation of a new plasmin cleavage site.

external link
48.

Rixon MW et al. (1985) Nucleotide sequence of the gene for the gamma chain of human fibrinogen.

external link
49.

NCBI article

NCBI 2266 external link
50.

OMIM.ORG article

Omim 134850 external link
51.

Orphanet article

Orphanet ID 121821 external link
52.

Wikipedia article

Wikipedia EN (Fibrinogen_gamma_chain) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues