Product Datasheet
AHI1 Antibody
Catalog Number: 40189
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot:Q8N157
Gene Accssion:NP_001128302
- Form of Antibody:
- Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
- Immunogen:
- Synthetic peptide of human Abelson helper integration site 1
- appl_detail:
-
Immunohistochemistry:1:25-1:100
- other_names:
- ORF1; AHI-1; JBTS3; dJ71N10.1
- Purification:
- Antigen affinity purification.
- Specificity:
- The antibody detects endogenous levels of total AHI1 protein.
- Background:
- 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.
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