Mouse anti-Human sapiens (Human) CAMLG Monoclonal Antibody

Function

Required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (PubMed:23041287, PubMed:24392163, PubMed:27226539). Together with GET1/WRB, acts as a membrane receptor for soluble GET3/TRC40, which recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol (PubMed:23041287, PubMed:24392163, PubMed:27226539). Required for the stability of GET1 (PubMed:32187542). Stimulates calcium signaling in T cells through its involvement in elevation of intracellular calcium (PubMed:7522304). Essential for the survival of peripheral follicular B cells (By similarity)

Subcellular Location

Endoplasmic reticulum membrane (Multi-pass membrane protein)

Disease Association

Congenital disorder of glycosylation 2Z (CDG2Z) : A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2Z is an autosomal recessive form characterized by a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, CDG2Z is characterized by combined O- and N-linked glycosylation defects. [The disease may be caused by variants affecting the gene represented in this entry]

Tissue Specificity

Ubiquitous. Highest levels in brain, testis and ovary

Subunit

(Microbial infection) Interacts with human herpes virus 8/HHV-8 protein K7; this interaction modulates intracellular calcium concentration

• Bram R.J. et al. Calcium signalling in T cells stimulated by a cyclophilin B-binding protein. — Nature (1994)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Mural R.J. et al. PubMed: CI-56FTJV1JKRRTT (SEP-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Morales V.M. et al. An immature transcript of the CAMLG gene. (MAY-)
• von Buelow G.-U. et al. NF-AT activation induced by a CAML-interacting member of the tumor necrosis factor receptor superfamily. — Science (1997)
• Feng P. et al. Kaposi's sarcoma-associated herpesvirus mitochondrial K7 protein targets a cellular calcium-modulating cyclophilin ligand to modulate intracellular calcium concentration and inhibit apoptosis. — J. Virol. (2002)
• Burkard T.R. et al. Initial characterization of the human central proteome. — BMC Syst. Biol. (2011)