VLDLR

Name

very low density lipoprotein receptor

Type

protein-coding

Position

2,621,182–2,660,056 (+)

Aliases

CAMRQ1, CARMQ1, CHRMQ1, VLDL-R, VLDLRCH

Ensembl

ENSG00000147852

RefSeq RNA

NM_001018056.3, NM_001322225.2, NM_001322226.2, NM_003383.5, XM_047423848.1

RefSeq protein

NP_001018066.1, NP_001309154.1, NP_001309155.1, NP_003374.3, XP_047279804.1

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009].