ALMS1; Alstrom syndrome 1; ALSS; KIAA0328; DKFZp686A118; DKFZp686D1828

For Research Use Only. Not for use in diagnostic procedures.

100ug of dried peptide

Shipped at ambient temperature, store at -20 degree C

Manufactured in an ISO 9001:2008 Certified Laboratory.

Small volumes of ALMS1 blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

425,137 Da

ALMS1, centrosome and basal body associated protein

Alstrom syndrome protein 1

Alstrom syndrome protein 1

KIAA0328??[Similar Products]

ALMS1_HUMAN

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]

ALMS1: 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. Defects in ALMS1 are the cause of Alstrom syndrome (ALMS). Alstrom syndrome is a rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and type 2 diabetes mellitus. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell cycle regulation

Chromosomal Location of Human Ortholog: 2p13

Cellular Component: centriole; centrosome; cilium; cytoplasm; cytosol; nucleus; spindle pole

Molecular Function: protein binding

Biological Process: endosome transport; G2/M transition of mitotic cell cycle; regulation of stress fiber formation

Disease: Alstrom Syndrome

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