Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Inactive heparanase-2

The HPSE2 encodes a heparanase, an enzyme involved in remodeling of the extracellular matrix. Thereby it is involved in angiogenesis and cell regulation processes. Mutations cause autosomal recessive urofacial syndrome 1.

Genetests:

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

Related Diseases:

Urofacial syndrome
HPSE2

References:

1.

McKenzie E et. al. (2000) Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.

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2.

Garcia-Minaur S et. al. (2001) Three new European cases of urofacial (Ochoa) syndrome.

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3.

Aydogdu O et. al. (2010) Ochoa syndrome: a spectrum of urofacial syndrome.

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4.

Derbent M et. al. (2009) Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?

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5.

de Moura JP et. al. (2009) Heparanase-2 expression in normal ovarian epithelium and in benign and malignant ovarian tumors.

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6.

Pang J et. al. (2010) Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

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7.

Daly SB et. al. (2010) Mutations in HPSE2 cause urofacial syndrome.

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8.

Mahmood S et. al. (2012) First HPSE2 missense mutation in urofacial syndrome.

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9.

Roberts NA et. al. (2014) Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.

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10.

Guo C et. al. (2015) A mouse model of urofacial syndrome with dysfunctional urination.

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Update: Sept. 26, 2018