VLDLR gene encodes very low density lipoprotein receptor (VLDLR), which is a component of the reelin (RELN) signaling pathway. VLDLR is involved in lipid metabolism and it guides neuroblast migration in the cerebral cortex and cerebellum. It has 5 domains: an N-terminal 328 amino acids composed of 8 cysteine-rich repeats; a 396-amino acid region homologous to the EGF-precursor that mediates the acid-dependent dissociation of the ligand in the LDLR; a 46-amino acid domain homologous to the clustered O-linked sugars of the LDLR; a 22-amino acid transmembrane domain; and a 54-amino acid cytoplasmic domain including an NPXY sequence. Highest expression of VLDLR is observed in heart, muscle, and adipose tissues.
Mutations in VLDLR are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 (CAMRQ1).
[See: United Arab Emirates > Ali et al., 2012].