Very Low Density Lipoprotein Receptor

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OMIM Number

192977

NCBI Gene ID

7436

Uniprot ID

P98155

Length

38,378 bases

No. of Exons

19

No. of isoforms

2

Protein Name

Very low-density lipoprotein receptor

Molecular Mass

96,098 Da

Amino Acid Count

873

Genomic Location

chr9:2,621,679-2,660,056

Gene Map Locus
9p24.2

Description

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).

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003383.5:c.2117G>T Oman; United Arab Emir...NC_000009.12:g.2650382G>TPathogenicPathogenicCerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1NG_012741.1:g.33590G>T; NM_003383.5:c.2117G>T ; NP_003374.3:p.Cys706Phe39751475064373
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