Rabbit anti-Human CASK Polyclonal Antibody

Uniprot Id

O14936

Target Species

Human

Target Name

CASK

Target Full Name

Peripheral plasma membrane protein CASK

Target Function

Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. Component of the LIN-10-LIN-2-LIN-7 complex, which associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules.

Target Involvement

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH); FG syndrome 4 (FGS4)

Target Subcellular Location

Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein.

Target Protein Families

Protein kinase superfamily, CAMK Ser/Thr protein kinase family, CaMK subfamily; MAGUK family

Target Tissue Specificity

Ubiquitous. Expression is significantly greater in brain relative to kidney, lung, and liver and in fetal brain and kidney relative to lung and liver.

Target Synonyms

CAGH39; Caki; Calcium/calmodulin dependent serine protein kinase; Calcium/calmodulin dependent serine protein kinase (MAGUK family); Calcium/calmodulin dependent serine protein kinase membrane associated guanylate kinase; Calcium/calmodulin-dependent serine protein kinase; CAMGUK; CAMGUK protein; CAMGUK; drosophila; homolog of; casK; CMG; CSKP_HUMAN; DXPri1; DXRib1; FGS4; FLJ22219; FLJ31914; hCASK; LIN 2; Lin 2 homolog; LIN2; Lin2 homolog; MICPCH; MRXSNA; Pals3; Peripheral plasma membrane protein CASK; Protein lin-2 homolog; TNRC8; Trinucleotide repeat containing 8; Vertebtate LIN2 homolog

Target Background

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.