Anti-AHI1 monoclonal antibody (CABT-26156MM)

Mouse anti-Mouse AHI1 monoclonal antibody for ICC/IF, IP, WB Datasheet

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Specifications


Host Species
Mouse
Antibody Isotype
IgG1
Clone
N6
Species Reactivity
Mouse
Immunogen
A recombinant Mouse AHI1 with proprietary tag fusion protein.
Conjugate
Unconjugated

Applications


Application Notes
ICC/IF: 1/200 - 1/1000; IP: 1-2 μg / 200-800 ug protein; WB: 1/1000 - 1/2000.
*Suggested working dilutions are given as a guide only. It is recommended that the user titrates the product for use in their own experiment using appropriate negative and positive controls.

Target


Alternative Names
AHI1; Abelson helper integration site 1; jouberin; Abelson helper integration site 1 protein homolog; Abelson helper integration site 1; Abelson helper integration site
Entrez Gene ID
UniProt ID

Product Background


Gene summary
AHI1 (Abelson Helper Integration Site 1) is a Protein Coding gene. Diseases associated with AHI1 include joubert syndrome-3 and joubert syndrome 1. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. GO annotations related to this gene include identical protein binding. An important paralog of this gene is WDR44. This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.
Antigen Description
Jouberin is a protein that in humans is encoded by the AHI1 gene. Joubert syndrome 3 (JBTS3) [MIM:608629]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction. Note=The disease is caused by mutations affecting the gene represented in this entry. The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was created to study the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.

Citations


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References


Eley, L; Gabrielides, C; et al. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. KIDNEY INTERNATIONAL 74:1139-1149(2008).

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