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Center for Nephrology and Metabolic Disorders
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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 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Urofacial syndrome
HPSE2

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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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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11.

Orphanet article

Orphanet ID 235189 external link
12.

NCBI article

NCBI 60495 external link
13.

OMIM.ORG article

Omim 613469 external link
14.

Wikipedia article

Wikipedia EN (HPSE2) external link
Update: Aug. 14, 2020
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