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.

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

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

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

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

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

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

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

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

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

11.	Orphanet article Orphanet ID 235189

12.	NCBI article NCBI 60495

13.	OMIM.ORG article Omim 613469

14.	Wikipedia article Wikipedia EN (HPSE2)

Update: Aug. 14, 2020

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