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Abnova
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Immunogen sequence: MPLHVKWPFP AVPPLTWTLA SSVVMGLVGT YSCFWTSEWA QAEAGPPGYP CPAGGILKLR HIWNLKLMRW TPAAADICFT KELHSHFFSL GKCVPVCRGD GVYQKGMDFI LEKLNHGDWV HIFPEGIGRL IAECHLNPII LPLWHVGEPG DGDREMASGV GGLGLPLVPG CPAPPHVWPS VHCAAGMNDV LPNSPPYFPR FGQKITVLIG KPFSALPVLE RLRAENKSAV EMRKALTDFI QEEFQHLKTQ AEQLHNHLQP GR
This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy, hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction. Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
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Event ID: 05befc42-fab0-4a58-9ef1-5ac9edd70295