Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Epithelial membrane protein 2

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

Genetests:

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
EMP2

References:

1.

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

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2.

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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3.

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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4.

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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5.

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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6.

Orphanet article

Orphanet ID 403061 [^]
7.

NCBI article

NCBI 2013 [^]
8.

OMIM.ORG article

Omim 602334 [^]
9.

Wikipedia article

Wikipedia EN (EMP2) [^]
Update: April 29, 2019