The ALMS1 Polyclonal Antibody (PACO00388) is a valuable tool for researchers studying ALMS1, a protein associated with Alström syndrome, a rare genetic disorder characterized by vision and hearing problems, obesity, and type 2 diabetes. This antibody, produced in rabbits, has high specificity for human samples and is validated for use in Western blot applications. It binds to ALMS1, enabling precise detection and analysis in a variety of cell types, making it ideal for investigations in genetics and rare disease research.
ALMS1 is a crucial protein involved in ciliary function and intracellular trafficking, playing a vital role in various cellular processes. Mutations in the ALMS1 gene have been linked to the development of Alström syndrome, making it a key target for understanding the mechanisms underlying this condition. By studying ALMS1, researchers can gain insights into ciliopathies and potential therapeutic interventions for Alström syndrome and related disorders.
Antibody Name:
ALMS1 Antibody
Antibody SKU:
PACO00388
Size:
50ug
Host Species:
Rabbit
Tested Applications:
ELISA, WB, IHC
Recommended Dilutions:
WB:1:500-1:2000, IHC:1:100-1:300
Species Reactivity:
Human
Immunogen:
synthesized peptide derived from the Internal region of human ALMS1.
Form:
Liquid
Storage Buffer:
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Purification Method:
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Clonality:
Polyclonal
Isotype:
IgG
Conjugate:
Non-conjugated
Synonyms:
ALMS1; KIAA0328; Alstrom syndrome protein 1
UniProt Protein Function:
Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells.
UniProt Protein Details:
NCBI Summary:
This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
