CASK
收藏rgd.mcw.edu2025-03-22 收录
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=733678
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资源简介：
This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
本基因编码一种钙/钙调素依赖的丝氨酸蛋白激酶。该编码蛋白为MAGUK（膜结合型鸟苷酸激酶）蛋白家族成员。此类蛋白作为支架蛋白，其编码蛋白位于大脑突触处。该基因的突变与FG综合征4、智力障碍及小头畸形伴桥脑和小脑发育不良，以及一种X连锁智力障碍相关。针对该基因，已发现多种转录变体，分别编码不同的异构体。[由RefSeq提供，2017年7月]
提供机构：
Rat Genome Database
