CHODL

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Chondrolectin
Identifiers
Symbols CHODL ; C21orf68; MT75
External IDs OMIM607247 MGI2179069 HomoloGene11795 GeneCards: CHODL Gene
RNA expression pattern
PBB GE CHODL 219867 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 140578 246048
Ensembl ENSG00000154645 ENSMUSG00000022860
UniProt Q9H9P2 Q9CXM0
RefSeq (mRNA) NM_001204174 NM_139134
RefSeq (protein) NP_001191103 NP_624360
Location (UCSC) Chr 21:
19.27 – 19.64 Mb
Chr 16:
78.93 – 78.95 Mb
PubMed search [1] [2]

Chondrolectin is a protein that in humans is encoded by the CHODL gene.[1][2] Mouse chondrolectin is encoded by Chodl.[3]

Structure[edit]

Chondrolectin is a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion.[1][3] In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens.[4] This protein has been shown to localise to the perinucleus.[1][5][6]

Function[edit]

The exact function of chondrolectin is unknown but it has been show to be a marker of fast motor neurons in mice,[6] and is involved in motor neuron development and growth in zebrafish (danio rerio).[7] Furthermore, human chondrolectin has been shown to localise to motor neurons within the spinal cord.[8]

Clinical significance[edit]

Chondrolectin is alternatively spliced in the spinal cord of mouse models[9] of the neuromuscular disease, spinal muscular atrophy (SMA), which predominantly affects lower motor neurons.[8] Increased levels of chondrolectin in a zebrafish model of SMA results in significant improvements in disease-related motor neuron defects.[10]

References[edit]

  1. ^ 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. 
  2. ^ "Entrez Gene: CHODL chondrolectin". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ 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.  edit
  8. ^ 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 2787017. PMID 20019802. 
  9. ^ 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 3124050. PMID 21708901. 
  10. ^ 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. 

Further reading[edit]