Entry
Name
DAB1-overexpression to RELN-VLDLR-PI3K signaling pathway
Definition
RELN -> VLDLR == DAB1* -> PI3K -> PIP3 -> AKT
Expanded
5649 -> 7436 == 1600v1 -> (5290,5291,5293) -> C05981 -> (207,208,10000)
Class
Type
Variant
Pathway
Disease
H00063 Spinocerebellar ataxia (SCA)
Gene
7436 VLDLR; very low density lipoprotein receptor
1600 DAB1; DAB adaptor protein 1
5290 PIK3CA; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
207 AKT1; AKT serine/threonine kinase 1
208 AKT2; AKT serine/threonine kinase 2
10000 AKT3; AKT serine/threonine kinase 3
Variant
1600v1 (DAB1*) DAB1 overexpression
Metabolite
C05981 Phosphatidylinositol-3,4,5-trisphosphate
Reference
Authors
Corral-Juan M, Serrano-Munuera C, Rabano A, Cota-Gonzalez D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Mendez-Del-Barrio C, Jesus S, Mir P, Volpini V, Alvarez-Ramo R, Sanchez I, Matilla-Duenas A
Title
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
Journal
Reference
Authors
Matilla-Duenas A, Volpini V
Title
Spinocerebellar Ataxia Type 37
Journal
GeneReviews (1993)
LinkDB
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