loading...| Preferred Name | Dystrophin | |
| Synonyms |
|
|
| Definitions |
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D016189 |
|
| AN |
a muscle protein: see MeSH definition for relation to musc dystrophy; /biosyn /drug eff /physiol /ultrastruct permitted |
|
| AQL |
AD AE AG AI AN BI BL CF CH CL CS DE DF EC GE HI IM IP ME PD PH PK PO RE SD ST TO TU UL UR |
|
| cui |
C0079259 |
|
| DC |
1 |
|
| definition |
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa. |
|
| DX |
19910101 |
|
| FX |
D020388 D018101 |
|
| HN |
91 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000096 http://purl.bioontology.org/ontology/MESH/Q000172 http://purl.bioontology.org/ontology/MESH/Q000627 http://purl.bioontology.org/ontology/MESH/Q000648 http://purl.bioontology.org/ontology/MESH/Q000493 http://purl.bioontology.org/ontology/MESH/Q000494 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000138 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000008 http://purl.bioontology.org/ontology/MESH/Q000009 http://purl.bioontology.org/ontology/MESH/Q000032 http://purl.bioontology.org/ontology/MESH/Q000037 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000302 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000592 http://purl.bioontology.org/ontology/MESH/Q000737 http://purl.bioontology.org/ontology/MESH/Q000819 http://purl.bioontology.org/ontology/MESH/Q000502 http://purl.bioontology.org/ontology/MESH/Q000506 http://purl.bioontology.org/ontology/MESH/Q000187 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000633 http://purl.bioontology.org/ontology/MESH/Q000600 |
|
| Inverse of RB |
0 |
|
| Inverse of RO | ||
| Machine permutation |
91 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C090839 http://purl.bioontology.org/ontology/MESH/C108221 http://purl.bioontology.org/ontology/MESH/C406103 http://purl.bioontology.org/ontology/MESH/C085339 http://purl.bioontology.org/ontology/MESH/C094406 http://purl.bioontology.org/ontology/MESH/C000708590 |
|
| MDA |
19900617 |
|
| MMR |
19991103 |
|
| MN |
D12.776.543.250 D12.776.210.500.250 D12.776.220.250 |
|
| notation |
D016189 |
|
| prefLabel |
Dystrophin |
|
| TERMUI |
T048120 |
|
| TH |
NLM (1991) |
|
| tui |
T116 T123 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D008565 |