Table 2 Gene triplication on human chromosome 21 controls intracellular calcium.

From: Altered motor coordination, vocal communication, and cerebellar circuit connectivity in mice carrying a near-complete human chromosome 21

HSA21 gene

Effector

Mechanism of action

Reference

DYRK1A

GluN2A, CaMKIIδ, CEP97

Surface expression and channel activity of NMDA receptors, intracellular signaling molecules in the cytoplasm

PMID: 25368549

PMID: 26067684

PMID: 34787650

PDE9A

Phospholamban

elevating the cytoplasmic [Ca2+]

PMID: 28649129

PCP4

Calmodulin

mobilize [Ca2+] in context dependent manner

PMID: 10751438

PMID: 23204517

PCNT

Calmodulin,PCP2

Distribution of calcium-selective channel on primary cilia

PMID: 25031429

PMID: 15337773

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