CHODL
Description
The CHODL (chondrolectin) is a protein-coding gene located on chromosome 21.
Chondrolectin is a protein encoded by the CHODL gene in humans. It's a type I membrane protein with a carbohydrate recognition domain, characteristic of C-type lectins, in its extracellular portion. This domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. Chondrolectin localizes to the perinucleus. Its exact function is unknown, but it has been shown to be a marker of fast motor neurons in mice and is involved in motor neuron development and growth in zebrafish. In humans, chondrolectin localizes to motor neurons within the spinal cord. In mouse models of spinal muscular atrophy (SMA), a neuromuscular disease affecting lower motor neurons, chondrolectin is alternatively spliced in the spinal cord. Increased levels of chondrolectin in a zebrafish model of SMA result in significant improvements in disease-related motor neuron defects.
CHODL is also known as C21orf68, MT75, PRED12.
