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DMD-2 | Dystrophin. (643 aa) | ||||
FGFR3 | Fibroblast growth factor receptor. (808 aa) | ||||
BSND | BSND isoform 1. (320 aa) | ||||
LMNA | LMNA isoform 8; Belongs to the intermediate filament family. (664 aa) | ||||
AQP6 | AQP6 isoform 2; Belongs to the MIP/aquaporin (TC 1.A.8) family. (282 aa) | ||||
HOXC13 | HOXC13 isoform 1. (330 aa) | ||||
BRCA2 | Breast cancer 2, early onset. (3418 aa) | ||||
GALC | Galactosylceramidase. (685 aa) | ||||
PLA2G4E | Phospholipase A2. (868 aa) | ||||
MYLPF | Myosin light chain, phosphorylatable, fast skeletal muscle. (169 aa) | ||||
SLC12A3 | SLC12A3 isoform 1. (1030 aa) | ||||
KRT10 | KRT10 isoform 1; Belongs to the intermediate filament family. (577 aa) | ||||
TMEM38A | Transmembrane protein 38A. (299 aa) | ||||
CFTR | Cystic fibrosis transmembrane conductance regulator; Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane (By similarity). Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelia [...] (1480 aa) | ||||
SLC22A8 | Solute carrier family 22 member 8. (542 aa) | ||||
TMEM52B | TMEM52B isoform 2. (183 aa) | ||||
TNNC2 | Troponin C2, fast skeletal type. (160 aa) | ||||
SGCA | Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein). (387 aa) | ||||
DYSF | DYSF isoform 8. (2119 aa) | ||||
LOC453361 | CAPN3 isoform 4; Belongs to the peptidase C2 family. (821 aa) | ||||
ANKRD23 | Ankyrin repeat domain 23. (305 aa) | ||||
KCNJ1 | Potassium voltage-gated channel subfamily J member 1. (420 aa) | ||||
RPL3L | Ribosomal protein L3 like; Belongs to the universal ribosomal protein uL3 family. (412 aa) | ||||
DMD | DMD isoform 3. (3685 aa) | ||||
BRCA1 | Breast cancer type 1 susceptibility protein homolog; E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain [...] (1884 aa) | ||||
GATA4 | GATA binding protein 4. (443 aa) | ||||
UMOD | UMOD isoform 1. (690 aa) | ||||
MIOX | Myo-inositol oxygenase. (285 aa) | ||||
ACTN3 | Actinin alpha 3 (gene/pseudogene). (944 aa) |