SCZD9; C1orf136

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Affinity Purification

1mg/ml (lot specific)

Store at -20 degree C (regular) or -80 degree C (long term). Avoid freeze / thaw cycles.
Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Small volumes of anti-DISC1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Polyclonal

Western Blot (WB), Immunohistochemistry (IHC)

WB: 1:500 - 1:2000
IHC: 1:50 - 1:200

Western blot analysis of extracts of various cell lines, using DISC1 antibody at 1:1000 dilution.
Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.
Lysates/proteins: 25ug per lane.
Blocking buffer: 3% nonfat dry milk in TBST.
Detection: ECL Basic Kit.
Exposure time: 10s.

Immunohistochemistry of paraffin-embedded human stomach using DISC1 antibody at dilution of 1:100 (40x lens).

Immunohistochemistry of paraffin-embedded rat kidney using DISC1 antibody at dilution of 1:100 (40x lens).

854

disrupted in schizophrenia 1

disrupted in schizophrenia 1 protein

Disrupted in schizophrenia 1 protein

KIAA0457??[Similar Products]

DISC1_HUMAN

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]

DISC1: Involved in the regulation of multiple aspects of embryonic and ***** neurogenesis. Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the ***** dentate gyrus of the hippocampus. Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance. Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during ***** neurogenesis, including neuron positioning, dendritic development and synapse formation. Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A. Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development. Plays a role, together with PCNT, in the microtubule network formation. 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. Genetic variation in DISC1 is associated with susceptibility to schizophrenia type 9 (SCZD9). A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. 8 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell development/differentiation; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 1q42.1

Cellular Component: microtubule; centrosome; postsynaptic membrane; mitochondrion; postsynaptic density; cell junction

Molecular Function: protein binding

Biological Process: positive regulation of neuroblast proliferation; mitochondrial calcium ion homeostasis; TOR signaling pathway; cell proliferation in forebrain; neuron migration; cerebral cortex radially oriented cell migration; Wnt receptor signaling pathway through beta-catenin; microtubule cytoskeleton organization and biogenesis; positive regulation of Wnt receptor signaling pathway

Disease: Schizophrenia; Schizophrenia 9

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