COLEC11 Antibody – Rabbit Polyclonal

This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

COLEC11: Lectin that binds to various sugars including fucose and mannose. Has a higher affinity for fucose compared to mannose. Does not bind to glucose, N-acetylglucosamine and N- acetylgalactosamine. Also binds lipopolysaccharides (LPS). Involved in fundamental development serving as a guidance cue for neural crest cell migration. Defects in COLEC11 are the cause of 3MC syndrome type 2 (3MC2). 3MC2 is an a disorder characterized by facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly archedDE eyebrows, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. Belongs to the COLEC10/COLEC11 family. 9 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 2p25.3

Cellular Component: collagen; extracellular region

Molecular Function: mannose binding

Biological Process: developmental process; multicellular organismal development; receptor-mediated endocytosis

Disease: 3mc Syndrome 2