Gene Symbol | VLDLR |
Entrez Gene ID | 7436 |
Full Name | very low density lipoprotein receptor |
Synonyms | CAMRQ1,CARMQ1,CHRMQ1,VLDL-R,VLDLRCH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) |