Gene: ZBTB37

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: SERPINC1

Alternate names for this Gene: AT3|AT3D|ATIII|ATIII-R2|ATIII-T1|ATIII-T2|THPH7

Gene Summary: The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.1

Description of this Gene: serpin family C member 1

Type of Gene: protein-coding

rs121909549 in ZBTB37;SERPINC1 gene and Antithrombin III Deficiency PMID 9759613 1998 The molecular basis of antithrombin deficiency in Belgian and Dutch families.

PMID 1547341 1992 Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

PMID 8443391 1993 Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

PMID 16908819 2006 Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

PMID 15164384 2004 Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.

PMID 9157604 1997 Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.

PMID 7959685 1994 Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.

PMID 1555650 1992 Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

PMID 9031473 1997 Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

PMID 8274732 1994 Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.

PMID 3080419 1986 Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity.

PMID 7994035 1994 Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.

PMID 3162733 1988 Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow.

PMID 11713457 2001 Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.

PMID 20027064 2010 The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

PMID 2013320 1991 Site-directed mutagenesis of alanine-382 of human antithrombin III.

PMID 2365065 1990 Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

PMID 23910795 2013 Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

PMID 2781509 1989 Antithrombin Chicago, amino acid substitution of arginine 393 to histidine.

PMID 7989582 1994 Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)

PMID 3191114 1988 Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.

rs1487411568 in ZBTB37;SERPINC1 gene and Deep Vein Thrombosis PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.