CHODL

Chondrolectin is a protein that in humans is encoded by the CHODL gene.^[5][6] Mouse chondrolectin is encoded by Chodl.^[7]

CHODL
Identifiers
Aliases	CHODL, C21orf68, MT75, PRED12, chondrolectin
External IDs	OMIM: 607247; MGI: 2179069; HomoloGene: 11795; GeneCards: CHODL; OMA:CHODL - orthologs
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q21.1 Start 17,901,263 bp[1] End 18,267,373 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 C3.1 Start 78,727,836 bp[2] End 78,748,621 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon right testis left testis gonad epithelium of colon spleen hypothalamus rectum inferior olivary nucleus ganglionic eminence Top expressed in facial motor nucleus vas deferens lumbar subsegment of spinal cord motor neuron body of femur anterior horn of spinal cord superior cervical ganglion soleus muscle intercostal muscle efferent ductule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function hyaluronic acid binding carbohydrate binding Cellular component cytoplasm perinuclear region of cytoplasm integral component of membrane membrane endoplasmic reticulum endoplasmic reticulum membrane Biological process muscle organ development regulation of neuron projection development nervous system development positive regulation of axonogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 140578 246048 Ensembl ENSG00000154645 ENSMUSG00000022860 UniProt Q9H9P2 Q9CXM0 RefSeq (mRNA) NM_001204174 NM_001204175 NM_001204176 NM_001204177 NM_001204178 NM_024944 NM_139134 NM_001362555 RefSeq (protein) NP_001191103 NP_001191104 NP_001191105 NP_001191106 NP_001191107 NP_079220 NP_624360 NP_001349484 Location (UCSC) Chr 21: 17.9 – 18.27 Mb Chr 16: 78.73 – 78.75 Mb PubMed search [3] [4]
Wikidata
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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]