ELK Biotechnology DMD rabbit pAb

ELK Biotechnology DMD rabbit pAb

제품 정보

세포 내 위치 (Cellular Localization)

Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side; Cytoplasm, cytoskeleton; Cell junction, synapse, postsynaptic cell membrane.
In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires ANK3.
Localizes to neuromuscular junctions (NMJs). In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals.

Background

dystrophin (DMD) Homo sapiens
The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. It was identified through positional cloning aimed at isolating the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies.
DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 newborn males, while BMD is a milder allelic form.
DMD patients typically carry mutations causing premature translation termination (nonsense or frame shift mutations), whereas BMD patients show reduced dystrophin due to in-frame deletions or lower expression levels.
The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites.
Dystrophin RNA is differentially spliced, producing various transcripts that encode multiple protein isoforms.