CASK
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Peripheral plasma membrane protein CASK is a protein that in humans is encoded by the CASK gene.[1][2] This gene is also known by several other names: CMG 2 (CAMGUK protein 2), calcium/calmodulin-dependent serine protein kinase 3 and membrane-associated guanylate kinase 2.
Gene
This gene is located on the short arm of the X chromosome (Xp11.4). It is 404,253 bases in length and lies on the Crick (minus) strand. The encoded protein has 926 amino acids with a predicted molecular weight of 105,123 Daltons.
Function
This protein is a multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. It interacts with the transcription factor TBR1 and binds to several cell-surface proteins including amyloid precursor protein, neurexins and syndecans.
Clinical importance
This gene has been implicated in X-linked mental retardation,[3] including specifically mental retardation and microcephaly with pontine and cerebellar hypoplasia.[4]
Interactions
CASK has been shown to interact with:
- KCNJ4[5][6]
- APBA1[7][8]
- ATP2B4[9]
- CINAP and TBR1[10]
- DLG1[6][11][12]
- DLG4[11]
- F11 receptor[13][14]
- ID1[15]
- KCNJ12[5][6]
- LIN7A[6][7]
- Nephrin[16]
- Parkin (ligase)[17]
- RPH3A[18]
- SDC2[18][19]
References
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Further reading
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