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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: FLJ35024; Very low-density lipoprotein receptor; VLDL receptor
基因别名: CAMRQ1; CARMQ1; CHRMQ1; VLDL-R; VLDLR; VLDLRCH
UniProt ID: (Human) P98155
Entrez Gene ID: (Human) 7436