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Peptide sequence: MSKSFQQSSL SRDSQGHGRD LSAAGIGLLA AATQSLSMPA SLGRMNQGTA
Sequence homology: Cow: 93%; Dog: 93%; Guinea Pig: 93%; Horse: 93%; Human: 100%; Mouse: 93%; Rabbit: 93%; Rat: 93%
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.
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: Matrin-3; vocal cord and pharyngeal weakness with distal myopathy
基因别名: ALS21; KIAA0723; MATR3; MPD2; VCPDM
UniProt ID: (Human) P43243
Entrez Gene ID: (Human) 9782