MATR3

Matrin 3 is a protein in eukaryotes. The protein is encoded by the MATR3 gene which is localized in humans on the long arm of chromosome 5 ( 5q31.2 ). It is a highly conserved protein in evolution. The MATR3 gene of the rat has with that of the people on a 96 -percent sequence homology. Matrine -3 is formed, among others, of skeletal muscle cells and lymphoblasts ( expressed).

Functions

After translation matrine 3 is transported into the cell nucleus. But it has a nuclear localization signal (german nuclear localization signal, NLS). In the cell nucleus it is part of the core matrix. Matrine - 3 has two zinc finger domains and two RNA recognition motifs ( RRM). Several features of matrine -3 are suspected. Probably matrine -3 plays a role in chromatin organization, DNA replication, transcription and repair as well as in RNA processing and transport of RNA.

Medical importance

A mutation in MATR3 gene is the cause of distal myopathy 2 (also vocal cord and pharyngeal weakness with distal myopathy, VCPDM ).

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