Chondrolectin is a protein that in humans is encoded by the CHODLgene.[5][6] Mouse chondrolectin is encoded by Chodl.[7]
Structure
Chondrolectin is a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion.[5][7] In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens.[8] This protein has been shown to localise to the perinucleus.[5][9][10]
Function
The exact function of chondrolectin is unknown but it has been shown to be a marker of fast motor neurons in mice,[10] and is involved in motor neuron development and growth in zebrafish (Danio rerio).[11] Furthermore, human chondrolectin has been shown to localise to motor neurons within the spinal cord.[12]
Clinical significance
Chondrolectin is alternatively spliced in the spinal cord of mouse models[13] of the neuromuscular disease, spinal muscular atrophy (SMA), which predominantly affects lower motor neurons.[12] Increased levels of chondrolectin in a zebrafish model of SMA results in significant improvements in disease-related motor neuron defects.[14]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ abcWeng L, Smits P, Wauters J, Merregaert J (Jun 2002). "Molecular cloning and characterization of human chondrolectin, a novel type I transmembrane protein homologous to C-type lectins". Genomics. 80 (1): 62–70. doi:10.1006/geno.2002.6806. PMID12079284.
^Claessens A, Van de Vijver K, Van Bockstaele DR, Wauters J, Berneman ZN, Van Marck E, Merregaert J (Nov 2007). "Expression and localization of CHODLDeltaE/CHODLfDeltaE, the soluble isoform of chondrolectin". Cell Biol Int. 31 (11): 1323–1330. doi:10.1016/j.cellbi.2007.05.014. PMID17606388. S2CID86132649.
^ abEnjin A, Rabe N, Nakanishi ST, Vallstedt A, Gezelius H, Memic F, Lind M, Hjalt T, Tourtellotte WG, Bruder C, Eichele G, Whelan PJ, Kullander K (Jun 2010). "Identification of novel spinal cholinergic genetic subtypes disclose Chodl and Pitx2 as markers for fast motor neurons and partition cells". J Comp Neurol. 518 (12): 2284–2304. doi:10.1002/cne.22332. PMID20437528. S2CID23009923.
Reymond A, Friedli M, Henrichsen CN, et al. (2002). "From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map". Genomics. 78 (1–2): 46–54. doi:10.1006/geno.2001.6640. PMID11707072.
