MTCH2 - mitochondrial carrier 2 Gene

中文名称：线粒体载体 2

种属: Homo sapiens

同用名: MIMP; HSPC032; SLC25A50

关于 MTCH2

功能概要

该基因编码位于线粒体内膜的核编码转运蛋白 SLC25 家族的成员。这个超家族的成员参与许多代谢途径和细胞功能。人类的全基因组关联研究已经在几个与肥胖相关的基因座中发现了单核苷酸多态性。该基因就是这样一个基因座，它在白色脂肪组织和脂肪细胞中高度表达，并被认为在脂肪细胞分化和生物学中发挥调节作用。已发现该基因编码不同亚型的可变剪接转录物变体。最近的一项研究表明，该基因是一个真正的终止密码子通读目标，可以通过使用替代的框内翻译终止密码子从相同的 mRNA 产生两种同种型。[RefSeq 提供，2017 年 12 月]

This gene encodes a member of the SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathways and cell functions. Genome-wide association studies in human have identified single-nucleotide polymorphisms in several loci associated with obesity. This gene is one such locus, which is highly expressed in white adipose tissue and adipocytes, and thought to play a regulatory role in adipocyte differentiation and biology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target that can produce two isoforms from the same mRNA by use of alternative in-frame translation termination codons. [provided by RefSeq, Dec 2017]