GENETIC ENCYCLOPEDIA
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gene: CAPNS1

id826
symbolCAPNS1
organismHomo sapiens
full namecalpain small subunit 1
summaryThis gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
variant-disease

GRCh37/hg19 19q13.12(chr19:36606538-36643669)x3 AND See cases

GRCh37/hg19 19q13.12(chr19:36628463-36758139)x3 AND not provided

GRCh37/hg19 19q13.12(chr19:36570287-36655341)x3 AND not provided

GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1 AND See cases

GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3 AND See cases

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