CHODL

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CHODL
Identifiers
Aliases CHODL, C21orf68, MT75, PRED12, chondrolectin
External IDs MGI: 2179069 HomoloGene: 11795 GeneCards: CHODL
Genetically Related Diseases
amyotrophic lateral sclerosis[1]
RNA expression pattern
PBB GE CHODL 219867 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_139134

RefSeq (protein)

NP_624360.2
NP_624360

Location (UCSC) Chr 21: 17.9 – 18.27 Mb Chr 16: 78.93 – 78.95 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Chondrolectin is a protein that in humans is encoded by the CHODL gene.[4][5] Mouse chondrolectin is encoded by Chodl.[6]

Structure[edit]

Chondrolectin is a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion.[4][6] In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens.[7] This protein has been shown to localise to the perinucleus.[4][8][9]

Function[edit]

The exact function of chondrolectin is unknown but it has been show to be a marker of fast motor neurons in mice,[9] and is involved in motor neuron development and growth in zebrafish (danio rerio).[10] Furthermore, human chondrolectin has been shown to localise to motor neurons within the spinal cord.[11]

Clinical significance[edit]

Chondrolectin is alternatively spliced in the spinal cord of mouse models[12] of the neuromuscular disease, spinal muscular atrophy (SMA), which predominantly affects lower motor neurons.[11] Increased levels of chondrolectin in a zebrafish model of SMA results in significant improvements in disease-related motor neuron defects.[13]

References[edit]

  1. ^ "Diseases that are genetically associated with CHODL view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ a b c Weng 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. PMID 12079284. 
  5. ^ "Entrez Gene: CHODL chondrolectin". 
  6. ^ a b Weng L, Hübner R, Claessens A, Smits P, Wauters J, Tylzanowski P, Van Marck E, Merregaert J (Apr 2003). "Isolation and characterization of chondrolectin (Chodl), a novel C-type lectin predominantly expressed in muscle cells". Gene. 308: 21–29. doi:10.1016/s0378-1119(03)00425-6. PMID 12711387. 
  7. ^ Zelensky AN, Gready JE (Dec 2005). "The C-type lectin-like domain superfamily". FEBS J. 272 (24): 6179–6217. doi:10.1111/j.1742-4658.2005.05031.x. PMID 16336259. 
  8. ^ 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. PMID 17606388. 
  9. ^ a b Enjin 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. PMID 20437528. 
  10. ^ Zhong, Z.; Ohnmacht, J.; Reimer, M. M.; Bach, I.; Becker, T.; Becker, C. G. (2012). "Chondrolectin Mediates Growth Cone Interactions of Motor Axons with an Intermediate Target". Journal of Neuroscience. 32 (13): 4426–4439. doi:10.1523/JNEUROSCI.5179-11.2012. PMID 22457492. 
  11. ^ a b Bäumer D, Lee S, Nicholson G, Davies JL, Parkinson NJ, Murray LM, Gillingwater TH, Ansorge O, Davies KE, Talbot K (Dec 2009). "Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy". PLoS Genet. 5 (12): e1000773. doi:10.1371/journal.pgen.1000773. PMC 2787017Freely accessible. PMID 20019802. 
  12. ^ Sleigh JN, Gillingwater TH, Talbot K (Aug 2011). "The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy". Dis Model Mech. 4 (4): 457–467. doi:10.1242/dmm.007245. PMC 3124050Freely accessible. PMID 21708901. 
  13. ^ Sleigh JN, Barreiro-Iglesias A, Oliver PL, Biba A, Becker T, Davies KE, Becker CG, Talbot K (Sep 2013). "Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy". Hum Mol Genet. 23 (4): 855–69. doi:10.1093/hmg/ddt477. PMID 24067532. 

External links[edit]

Further reading[edit]