Epitheliales Membraneprotein 2
Das EMP2-Gen kodiert ein Membranprotein. Mutationen sind für das autosomal rezessive kongenitale nephrotische Syndrom vom Typ 10 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Gee HY et al. (2014) Mutations in EMP2 cause childhood-onset nephrotic syndrome.
|
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.
|
5. |
Ben-Porath I et al. (1998) Chromosomal mapping of Tmp (Emp1), Xmp (Emp2), and Ymp (Emp3), genes encoding membrane proteins related to Pmp22.
|
6. |
Orphanet article
Orphanet ID 403061
|
7. |
NCBI article
NCBI 2013
|
8. |
OMIM.ORG article
Omim 602334
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Update: 14. August 2020