This protein contains a large tandem-repeat domain that contains no cysteine residues. Mutations in this gene have been associated with Alstrom syndrome. The encoded protein may play a role in hearing, sight, obesity, and liver function. Alternative splice variants have been described but their full length sequences have not been determined.
Suitable for use in ELISA and Western Blot. Other applications not tested.
ELISA: > 1:32000
Western Blot: No signal obtained yet but low background observed in Human Muscle lysate at up to 0.5ug/ml.
Optimal dilutions to be determined by the researcher.
Storage and Stability:
May be stored at 4°C for short-term only. For long-term storage and to avoid repeated freezing and thawing, aliquot and add glycerol (40-50%). Freeze at -20°C. Aliquots are stable for at least 12 months at -20°C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.
|Synthetic peptide: RVTNQLLGRKVPWD from C Terminus of the protein sequence according to NP_055935. |
|Purified from goat serum by ammonium sulfate precipitation followed by antigen affinity chromatography using the immunizing peptide. |
|Supplied as a liquid in TBS, pH 7.3, 0.5% BSA, 0.02% sodium azide.|
|Recognizes ALMS 1. The C-terminus of ALMS 1 shares an 8 amino acid stretch with two other human proteins: hypothetical protein (XP_169104) and ERAL1 (NP_005693). However, this stretch is located internally in these two proteins and so will most likely not crossreact with this antibody. The N-terminus, not chosen as the peptide, is expected to cyclize during synthesis. Species Crossreactivity: Expected to crossreact with Human and Mouse due to sequence homology. |
|Intended for research use only. Not for use in human, therapeutic, or diagnostic applications.|
General: Collin GB et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in AlstrÃ¶m syndrome. Nat Genet 31:74-8 (2002).|