| Gene Symbol |
MYOT
|
| Entrez Gene |
9499
|
| Alt Symbol |
LGMD1, LGMD1A, MFM3, TTID, TTOD
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
myotilin
|
| Other Description |
57 kDa cytoskeletal protein|myofibrillar titin-like Ig domains protein|titin immunoglobulin domain protein (myotilin)
|
| Swissprots |
Q9UBF9 B4DT79 A0A4R6
|
| Accessions |
AAU05612 EAW62177 EAW62178 Q9UBF9 AF133820 AAD29051 AF144477 AAD44754 AK300076 BAG61880 AK300088 BAG61891 AK307620 AK312733 BAG35604 BC005376 AAH05376 DA896167 EU176357 ABW03808 GQ129442 ACT64576 GQ129443 ACT64577 NM_001135940 NP_001129412 NM_001300911 NP_001287840 NM_006790 NP_006781
|
| Function |
Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells. {ECO:0000269|PubMed:12499399}.
|
| Subcellular Location |
Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Sarcomeric, also localized to the sarcolemma. Colocalizes with MYOZ1 at the Z-lines in skeletal muscle.
|
| Tissue Specificity |
Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland. {ECO:0000269|PubMed:10369880, ECO:0000269|PubMed:10486214}.
|