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Center for Nephrology and Metabolic Disorders
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Epithelial membrane protein 2

The EMP2 gene encodes a membrane protein. Mutations cause autosomal recessive congenital nephrotic syndrome type 10.


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

Related Diseases:

Congenital nephrotic syndrome type 10



Gee HY et al. (2014) Mutations in EMP2 cause childhood-onset nephrotic syndrome.

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Liehr T et al. (1999) Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3.

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Taylor V et al. (1996) Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family.

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Ben-Porath I et al. (1996) Characterization of a tumor-associated gene, a member of a novel family of genes encoding membrane glycoproteins.

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Ben-Porath I et al. (1998) Chromosomal mapping of Tmp (Emp1), Xmp (Emp2), and Ymp (Emp3), genes encoding membrane proteins related to Pmp22.

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Orphanet article

Orphanet ID 403061 external link

NCBI article

NCBI 2013 external link

OMIM.ORG article

Omim 602334 external link

Wikipedia article

Wikipedia EN (EMP2) external link
Update: Aug. 14, 2020
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