Antigen Description
CACHD1 (cache domain containing 1), also known as VWCD1, is a 1,274 amino acid single-pass type I membrane protein belonging to the calcium channel subunit alpha-2/delta family. Containing two cache domains and a VWFA (von Willebrand factor A) domain, CACHD1 is suggested to be involved in the regulation of voltage-dependent calcium channels. Existing as two isoforms produced by alternative splicing, CACHD1 is encoded by a gene located on human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson's disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.
COA
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