Anti-CASK 抗体 (ab3383)

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 TRB1. 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.

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

Defects in CASK are the cause of mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Patients with mental retardation X-linked CASK-related can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia (MICPCH Syndrome). A milder phenotype consists of mental retardation alone or associated with nystagmus.
Defects in CASK are the cause of FG syndrome type 4 (FGS4) [MIM:300422]. FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.

In the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
Belongs to the MAGUK family.
Contains 1 guanylate kinase-like domain.
Contains 2 L27 domains.
Contains 1 PDZ (DHR) domain.
Contains 1 protein kinase domain.
Contains 1 SH3 domain.

The first L27 domain binds DLG1 and the second L27 domain probably binds LIN7.
The protein kinase domain mediates the interaction with FCHSD2.

Nucleus. Cytoplasm. Cell membrane.