Product Datasheet
Jouberin antibody
Catalog Number: 22630
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot:Q8N157
Gene ID:54806
- Form of Antibody:
- Supplied in 0.1M Tris-buffered saline with 10% Glycerol (pH7.0). 0.01% Thimerosal was added as a preservative.
- Storage:
- Store at -20˚C for long term preservation (recommended). Store at 4˚C for short term use.
- Immunogen:
- Synthetic peptide contain a sequence corresponding to a region within amino acids 1 and 12 of Jouberin
- appl_detail:
- Predicted MW: 137kd
Western blotting: 1:500-1:3000
- other_names:
- ORF1; AHI-1; JBTS3; FLJ14023; FLJ20069; dJ71N10.1; DKFZp686J1653
- Purification:
- Purified by antigen-affinity chromatography.
- 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. [provided by RefSeq]
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