VARIANT: 26119v1
Entry
26119v1 Variant
Name
LDLRAP1 mutation
Gene
LDLRAP1
low density lipoprotein receptor adaptor protein 1 [KO:
K12474
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
605747
Network
nt06320
APOB-LDLR signaling
Element
N00335
Mutation-inactivated LDLRAP1 to vesicular uptake of lipoproteins
Reference
PMID:
11326085
Authors
Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH
Title
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
Journal
Science 292:1394-8 (2001)
DOI:
10.1126/science.1060458
LinkDB
DBGET
integrated database retrieval system
