免疫原
Synthesized peptide derived from human DISC1 AA range: 423-473
特异性
This antibody detects endogenous levels of DISC1 at Human/Mouse/Rat
来源
Polyclonal, Rabbit,IgG
组成(Formulation)
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺(Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景(Background)
This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008],
功能
developmental stage:Expression rises within the dentate gyrus and temporal cortex from the neonatal period to infancy, declines markedly in adolescence, and declines further with aging.,disease:A chromosomal aberration involving DISC1 segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Translocation t(1;11)(q42.1;q14.3). The truncated DISC1 protein produced by this translocation is unable to interact with ATF4, ATF5 and NDEL1.,disease:Genetic variation in DISC1 may be associated with susceptibility to schizoaffective disorder [MIM:181500]. Schizoaffective disorder is a psychiatric condition characterized by the co-occurrence of symptoms of both mood disorder and psychosis.,disease:Genetic variation in DISC1 may be associated with susceptibility to schizophrenia 9 (SCZD9) [MIM:604906]. Schizophrenia [MIM:181500] is a psychosis, a disorder of thought
基因名称(Gene Name)
DISC1 KIAA0457
细胞定位
Cytoplasm . Cytoplasm, cytoskeleton . Mitochondrion . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Cell junction, synapse, postsynaptic density . Colocalizes with NDEL1 in the perinuclear region and the centrosome (By similarity). Localizes to punctate cytoplasmic foci which overlap in part with mitochondria (PubMed:12506198, PubMed:15797709). Colocalizes with PCNT at the centrosome (PubMed:18955030). .
组织表达
Ubiquitous. Highly expressed in the dentate gyrus of the hippocampus. Also expressed in the temporal and parahippocampal cortices and cells of the white matter.