RBCC Red Blood Cell Collection

MATR3_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: MATR3 , KIAA0723
Protein names and data: MATR3_HUMAN , Matrin-3 Lenght: 847 a.a.
Mass: 94623 Da
fasta formatted sequence
Function: May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs.
Disease: ( OMIM: 164015 606070 ) Myopathy, distal, 2 (MPD2) [MIM:606070]: A muscular disorder characterized by distal weakness, with onset in hands and feet, associated with vocal cord and pharyngeal weakness causing a nasal voice and swallowing disorders. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus matrix.

Genetic variants

85 - 85 S -> C (in MPD2; dbSNP:rs121434591). VAR_063421 121434591

Database cross-references

UniProt: P43243
Ensembl: ENST00000361059
Ensembl: ENST00000394805
Ensembl: ENST00000503811
Ensembl: ENST00000509990
MIM: 164015
MIM: 606070
neXtProt: NX_P43243
Antibodypedia: P43243 (may not find the protein thus also not any antibody)
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