Matrin-3 is a protein that in humans is encoded by the MATR3 gene. The protein encoded by this gene is localized in the nuclear matrix. It may play a...
11 KB (1,050 words) - 16:39, 6 October 2024
Other RNA metabolism genes associated with ALS include ANG, SETX, and MATR3. C9orf72 is the most commonly mutated gene in ALS and causes motor neuron...
133 KB (14,316 words) - 02:44, 18 June 2025
Distal muscular dystrophy Dysferlin, TIA1, GNE (gene), MYH7, Titin, MYOT, MATR3, unknown Dominant or recessive Duchenne muscular dystrophy Dystrophin X-linked...
43 KB (995 words) - 23:45, 24 May 2025
MSP3 (OMIM: 615424) respectively. Additional genes linked to MSP include MATR3, OPTN, and p62/SQSTM1. Harrison AF, Shorter J (April 2017). "RNA-binding...
5 KB (492 words) - 09:04, 2 June 2025
implicated in: Distal myopathy with vocal cord and pharyngeal weakness AD 606070 MATR3 5q31 Amyotrophic lateral sclerosis 21 (ALS21). One study suggests that all...
13 KB (932 words) - 23:58, 25 May 2025
Mendelian genes responsible for familial ALS and dementia, including VCP, MATR3, KIF5A, HTT, and SPTLC1. Dr. Traynor is a co-recipient of the Potamkin Prize...
13 KB (1,082 words) - 17:32, 17 April 2025
HGNC:6908 O00339 9295 MATN3 HGNC:6909 O15232 9296 MATN4 HGNC:6910 O95460 9297 MATR3 HGNC:6912 P43243 9298 MAU2 HGNC:29140 Q9Y6X3 9299 MAVS HGNC:29233 Q7Z434...
277 KB (17 words) - 18:41, 6 October 2024
sALS. PFN1 was identified in 2012, HNRNPA1 and HNRNPA2B1 in 2013, CHCHD10, MATR3, and TUBA4A in 2014, and TBK1 in 2015. C21orf2, CCNF, and NEK1 were associated...
38 KB (3,891 words) - 14:43, 24 May 2025
HNRNPR HNRPR No LMNB1 LMNB1 No ILF2 ILF2 No H2AFY H2AY No RBM28 RBM28 No MATR3 MATR3 No SYNCRIP HNRPQ Yes HNRNPCL1 HNRCL No APOA1 APOA1 No XRCC6 XRCC6 No...
28 KB (2,093 words) - 18:17, 31 October 2024
Nr4A2. NONO binds to SFPQ to form a heterodimer that interacts with the MATR3 protein. The interaction of these three proteins may be part of the process...
21 KB (2,467 words) - 13:45, 23 August 2024
desmin-related, cardioskeletal; 601419; DES Myopathy, distal 2; 606070; MATR3 Myopathy, distal, with anterior tibial onset; 606768; DYSF Myopathy, early-onset...
234 KB (18,877 words) - 18:07, 24 March 2025