靶标:
MATR3
产品别名:
ALS21; MPD2; VCPDM; MATR3; matrin 3; matrin 3; matrin-3; vocal cord and pharyngeal weakness with distal myopathy; Matrin 3蛋白(MATR3); 核基质蛋白3;
背景信息:
matrin 3(MATR3) Homo sapiens This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013],