Gene Symbol | TMEM127 |
Entrez Gene ID | 55654 |
Full Name | transmembrane protein 127 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]. |
Disorder MIM: | |
Disorder Html: | {Pheochromocytoma, susceptibility to}, 171300 (3) |