| Gene Symbol |
DMD
|
| Entrez Gene |
1756
|
| Alt Symbol |
BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
dystrophin
|
| Other Description |
-
|
| Swissprots |
P11532 Q7KZ48 Q02295 Q14169 Q5JYU0 Q14170 E9PDN1 Q6NSJ9 Q8N754 Q9UCW4 Q9UCW3
|
| Accessions |
AAA35765 AAA35779 AAA52309 AAA52330 AAA74506 AAA74507 AAA74508 AAA86115 AAA86116 AAB53001 AAB59464 AAC51631 AAD03808 AAD03809 AAD13821 AAL61549 AAL61550 AAL61551 AAL61552 AAL61553 AAL61554 AAL61555 AAL61556 AAL61557 AAL61558 AAL61559 AAL61560 AAL61561 AAL61562 AAL61563 AAL61564 AAL61565 AAL61566 AAL61567 AAL61568 AAL61569 AAL61570 AAL61571 AAL61572 AAL61573 AAL61574 AAL61575 AAL61576 AAL61577 AAL61578 AAL61579 AAL61580 AAL61581 AAL61582 AAL61583 AAL61584 AAL61585 AAL61586 AAL61587 AAL61588 AAL61589 AAL65098 AAL65099 AAL65100 AAN87132 ADZ31225 ADZ31226 BAA90413 CAA31451 CAA31452 CAA31453 CAA31454 CAA33518 CAA38589 CAD30261 CAE82077 CCQ43246 CCQ43247 EAW99061 EAW99062 EAW99063 EAW99064 EAW99065 EAW99066 P11532 AB208836 BAD92073 AK129855 AK299936 BAG61769 AK309142 BC009242 AAH09242 BC010932 BC028720 AAH28720 BC036103 AAH36103 BC070078 AAH70078 BC094758 AAH94758 BC111587 AAI11588 BC111836 AAI11837 BC111934 AAI11935 BC118002 AAI18003 BC127103 AAI27104 BC150141 AAI50142 DA804849 DB233002 L35854 M18533 AAA53189 M63072 AAA52312 M63073 AAA52313 M63074 AAA52314 M63075 AAA52315 M92650 AAA52316 S38776 AAB22395 S42206 AAD13820 S60091 AAD13910 S60970 S60971 S60972 S60973 S62617 AAB27159 S64152 S71486 AAD14085 S81419 AAD14363 X06178 CAA29544 X06179 CAA29545 X14298 CAA32479 X15148 CAA33245 X15149 CAA33246 XM_006724468 XP_006724531 XM_006724469 XP_006724532 XM_006724470 XP_006724533 XM_006724471 XP_006724534 XM_006724472 XP_006724535 XM_006724473 XP_006724536 XM_006724474 XP_006724537 XM_006724475 XP_006724538 XM_011545467 XP_011543769 XM_011545468 XP_011543770 XM_011545469 XP_011543771 NM_000109 NP_000100 NM_004006 NP_003997 NM_004009 NP_004000 NM_004010 NP_004001 NM_004011 NP_004002 NM_004012 NP_004003 NM_004013 NP_004004 NM_004014 NP_004005 NM_004015 NP_004006 NM_004016 NP_004007 NM_004017 NP_004008 NM_004018 NP_004009 NM_004019 NP_004010 NM_004020 NP_004011 NM_004021 NP_004012 NM_004022 NP_004013 NM_004023 NP_004014 NM_004007
|
| Function |
Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin- associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. {ECO:0000269|PubMed:16710609}.
|
| Subcellular Location |
Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Note=In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs) in the presence of ANK2 (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Isoform 5 is expressed in heart, brain, liver, testis and hepatoma cells. Most tissues contain transcripts of multiple isoforms, however only isoform 5 is detected in heart and liver. {ECO:0000269|PubMed:1319059, ECO:0000269|PubMed:16000376, ECO:0000269|PubMed:8541829}.
|
| Top Pathways |
Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy
|