| Tbio | Myotilin |
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.
This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cardiomyopathies | 110 | 0.0 | 0.0 |
| MYOPATHY, SPHEROID BODY | 1 | 0.0 | 0.0 |
| MYOTILINOPATHY | 1 | 0.0 | 0.0 |
| Muscle Weakness | 170 | 0.0 | 0.0 |
| Muscular dystrophy, limb-girdle, type 1A | 1 | 0.0 | 0.0 |
| Peripheral Nervous System Diseases | 52 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 6.1e-05 |
| non diabetic and post-ischemic heart failure | 200 | 4.1e-02 |
| type II diabetes mellitus and post-ischemic heart failure | 88 | 4.5e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| limb-girdle muscular dystrophy | 37 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Glycogen storage disease IV | 6 | 3.094 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| non diabetic and post-ischemic heart fai... | -1.100 | 4.1e-02 |
| ovarian cancer | -1.400 | 6.1e-05 |
| type II diabetes mellitus and post-ische... | -1.300 | 4.5e-02 |
MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQPRQCTEQRFSASSTLSSHITMSSSAFP 1 - 70 ASPKQHAGSNPGQRVTTTYNQSPASFLSSILPSQPDYNSSKIPSAMDSNYQQSSAGQPINAKPSQTANAK 71 - 140 PIPRTPDHEIQGSKEALIQDLERKLKCKDTLLHNGNQRLTYEEKMARRLLGPQNAAAVFQAQDDSGAQDS 141 - 210 QQHNSEHARLQVPTSQVRSRSTSRGDVNDQDAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPD 211 - 280 VSWYLNGRTVQSDDLHKMIVSEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPM 281 - 350 FIYKPQSKKVLEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGW 351 - 420 YTVSAVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPEGEFQRLAAQS 421 - 490 GLYESEEL 491 - 498 //
