Advillin
Das AVIL-Gen kodiert ein Protein, Advillin, welches Actin bindet. Mutationen sind für das autosomal rezessive nephrotische Syndrom vom Typ 21 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Kim J et al. (2010) Functional genomic screen for modulators of ciliogenesis and cilium length.
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2. |
Marks PW et al. (1998) Advillin (p92): a new member of the gelsolin/villin family of actin regulatory proteins.
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3. |
Tümer Z et al. (2002) Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2).
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4. |
Hasegawa H et al. (2007) Analyzing somatosensory axon projections with the sensory neuron-specific Advillin gene.
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5. |
Rao J et al. (2017) Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.
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Update: 3. November 2022