Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thrombomodulin

Thrombomodulin is a glycoprotein located on the surface of endothelial cells. When binding to thrombin it changes the specifity of the protease towards activiting of anticoagulants such as protein C. Mutations of the gene heve been seen in thrombophilia and atypical hemolytic uremic syndrome.

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:

Hemolytic-Uremic Syndrome
ADAMTS13
C3
C4BPA
C4BPB
CD46
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
DGKE
Methylmalonic aciduria
Methylmalonic aciduria and homocystinuria cblC
MMACHC
Methylmalonic aciduria and homocystinuria cblD
MMADHC
Methylmalonic aciduria type mut
MUT
PIGA
PLG
THBD
Thromboembolic diseases
Autosomal dominant protein C deficiency
PROC
Autosomal dominant protein S deficiency
PROS1
Autosomal recessive protein C deficiency
PROC
Autosomal recessive protein S deficiency
PROS1
F2
F5
Factor XII deficiency
F12
HABP2
Hyperhomocysteinemic thrombosis
CBS
Hypoplasminogenemia
Dysplasminogenemia
PLG
Hypoplasminogenemia
PLG
MTHFR
PAI transcription modulator
SERPINE1
Protein Z deficiency
PROZ
SERPINA10
SERPINC1
THBD
Thrombophilia due to heparin cofactor 2 deficiency
SERPIND1
VKORC1

References:

1.

Le Flem L et al. (1999) Mutations in promoter region of thrombomodulin and venous thromboembolic disease.

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2.

Kunz G et al. (2000) Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction.

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3.

Faioni EM et al. (2002) Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.

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4.

Ohlin AK et al. (1995) The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.

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5.

Doggen CJ et al. (1998) A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction in men.

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6.

NCBI article

NCBI 7056 [^]
7.

OMIM.ORG article

Omim 188040 [^]
8.

Orphanet article

Orphanet ID 120088 [^]
9.

Wikipedia article

Wikipedia EN (Thrombomodulin) [^]
Update: April 29, 2019