Dysferlin (DYSF) Human Gene Knockout Kit (CRISPR)

CAT#: KN419485

DYSF - KN2.0, Human gene knockout kit via CRISPR, non-homology mediated.

Product Images

Specifications

Product Data

• Format: 2 gRNA vectors, 1 linear donor
• Donor DNA: EF1a-GFP-P2A-Puro
• Symbol: DYSF
• Locus ID: 8291
• Disclaimer: The kit is designed based on the best knowledge of CRISPR technology. The system has been functionally validated for knocking-in the cassette downstream the native promoter. The efficiency of the knock-out varies due to the nature of the biology and the complexity of the experimental process.

Reference Data

• RefSeq: NM_001130455, NM_001130976, NM_001130977, NM_001130978, NM_001130979, NM_001130980, NM_001130981, NM_001130982, NM_001130983, NM_001130984, NM_001130985, NM_001130986, NM_001130987, NM_003494
• Synonyms: FER1L1; LGMD2B; MMD1
• Summary: The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]