Entrez gene ID | | 9782 |
Official gene symbol | | MATR3 |
Full name | | matrin 3 |
Aliases | | ,DKFZp686K0542,DKFZp686K23100,KIAA0723,MGC9105,MPD2, |
Gene summary | | This locus encodes a nuclear matrix protein. Mutations at this locus have been associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts with an upstream locus have been described. Related pseuodgenses have been defined on chr1 and chrX. |
Location | | Chromosome: 5 Locus: 5q31.2 |
Gene position | | 138609441 - 138667366 Map Viewer |
Gene orientation | | plus |
Gene size | | 57926 bp |
Gene sequence |
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OMIM ID | | 606070 |
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