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CHODL
Protein-coding gene in humans From Wikipedia, the free encyclopedia
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Chondrolectin is a protein that in humans is encoded by the CHODL gene.[5][6] Mouse chondrolectin is encoded by Chodl.[7]
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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]
References
External links
Further reading
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