VIPAS39-Gen
Das VIPAS39-Gen kodiert ein lysosomales Transportprotein. Mutationen führen zum autosomal rezessiven ARC-Syndrom 2.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Cullinane AR et al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
|
2. |
Heilig R et al. (2003) The DNA sequence and analysis of human chromosome 14.
|
3. |
Zhu GD et al. (2009) SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery.
|
4. |
NCBI article
NCBI 63894
|
5. |
OMIM.ORG article
Omim 613401
|
6. |
Orphanet article
Orphanet ID 227089
|
Update: 14. August 2020