MALRD1 - MAM and LDL receptor class A domain containing 1 Gene

中文名称：含 MAM 和 LDL 受体 A 类域 1

种属: Homo sapiens

同用名: DIET1; C10orf112; bA265G8.2

关于 MALRD1

功能概要

该基因编码一种保守蛋白，具有多个 MAM (安眠蛋白 A5 蛋白酪氨酸磷酸酶 mu) 和 LDLR A2 (低密度脂蛋白受体 A2) 结构域。该基因的表达在小肠中富集，并在表现出肠上皮细胞特性的人细胞系分化过程中上调。编码的蛋白质已显示可调节人肠道细胞系中 FGF19 的产生，并可调节肝脏中的胆汁酸代谢。该基因的等位基因与 apoE E4 等位基因之间的协同相互作用与人类患者患阿尔茨海默氏病的风险升高有关。[RefSeq 提供，2017 年 7 月]

This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine Phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the apoE E4 allele is associated with an elevated risk of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2017]