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Q7Z4I7 Proteins LIM zinc-binding domain Repeats
Uniprot ID:Q7Z4I7
Protein name: LIM and senescent cell antigen-like-containing domain protein 2
Gene : LIMS2 PINCH2
Protein Family:
Squence Length : 341
Sequnce
>Q7Z4I7 342 MTGSNMSDALANAVCQRCQARFSPAERIVNSNGELYHEHCFVCAQCFRPFPEGLFYEFEGRKYCEHDFQMLFAPCCGSCGEFIIGRVIKAMNNNWHPGCFRCELCDVELADLGFVKNAGRHLCRPCHNREKAKGLGKYICQRCHLVIDEQPLMFRSDAYHPDHFNCTHCGKELTAEARELKGELYCLPCHDKMGVPICGACRRPIEGRVVNALGKQWHVEHFVCAKCEKPFLGHRHYEKKGLAYCETHYNQLFGDVCYNCSHVIEGDVVSALNKAWCVSCFSCSTCNSKLTLKNKFVEFDMKPVCKRCYEKFPLELKKRLKKLSELTSRKAQPKATDLNSA
Domains
DOMAIN 13 74 LIM zinc-binding 1 DOMAIN 76 133 LIM zinc-binding 2 DOMAIN 138 195 LIM zinc-binding 3 DOMAIN 196 255 LIM zinc-binding 4 DOMAIN 256 315 LIM zinc-binding 5
LIM zinc-binding sequence regions
13 - 74 CQRCQARFSPAERIVNSNGELYHEHCFVCAQCFRPFPEGLFYEFEGRKYCEHDFQMLFAPCC 76 - 133 SCGEFIIGRVIKAMNNNWHPGCFRCELCDVELADLGFVKNAGRHLCRPCHNREKAKGL 138 - 195 CQRCHLVIDEQPLMFRSDAYHPDHFNCTHCGKELTAEARELKGELYCLPCHDKMGVPI 196 - 255 CGACRRPIEGRVVNALGKQWHVEHFVCAKCEKPFLGHRHYEKKGLAYCETHYNQLFGDVC 256 - 315 YNCSHVIEGDVVSALNKAWCVSCFSCSTCNSKLTLKNKFVEFDMKPVCKRCYEKFPLELK
Function
"Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration"
Disease
"DISEASE: Limb-girdle muscular dystrophy 2W (LGMD2W) [MIM:616827]: A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy LGMD2W is characterized by childhood-onset of weakness progressing to a severe quadriparesis Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy Note=The disease may be caused by mutations affecting the gene represented in this entry"