Chordin-like 1
| CHRDL1 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | CHRDL1, chordin-like 1, CHL, MGC1, MGCN, NRLN1, VOPT, dA141H5.1, chordin like 1 | |||||
| External IDs | MGI: 1933172 HomoloGene: 12834 GeneCards: CHRDL1 | |||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr X: 110.67 – 110.8 Mb | Chr X: 143.29 – 143.39 Mb | ||||
| PubMed search | [1] | [2] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
Chordin-like 1 is a protein that in humans is encoded by the CHRDL1 gene.[3]
Function
This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described.[3]
Clinical significance
Mutations in CHRDL1 are associated to Neuhäuser Syndrome , X-linked megalocornea and central corneal thickness .[4]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 "Entrez Gene: Chordin-like 1". Retrieved 2014-08-06.
- ↑ Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ (2014). "Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness". PLoS ONE. 9 (8): e104163. doi:10.1371/journal.pone.0104163. PMC 4122416
. PMID 25093588.
Further reading
- Sakuta H; Suzuki R; Takahashi H; Kato A; Shintani T; Iemura Si; Yamamoto TS; Ueno N; Noda M (July 2001). "Ventroptin: a BMP-4 antagonist expressed in a double-gradient pattern in the retina". Science. 293 (5527): 111–5. doi:10.1126/science.1058379. PMID 11441185.
- Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ (2012). "X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development". Am. J. Hum. Genet. 90 (2): 247–59. doi:10.1016/j.ajhg.2011.12.019. PMC 3276677. PMID 22284829.
- Kane R, Godson C, O'Brien C (2008). "Chordin-like 1, a bone morphogenetic protein-4 antagonist, is upregulated by hypoxia in human retinal pericytes and plays a role in regulating angiogenesis". Mol. Vis. 14: 1138–48. PMC 2435163. PMID 18587495.
- Fernandes H, Dechering K, van Someren E, Steeghs I, Apotheker M, Mentink A, van Blitterswijk C, de Boer J (2010). "Effect of chordin-like 1 on MC3T3-E1 and human mesenchymal stem cells". Cells Tissues Organs (Print). 191 (6): 443–52. doi:10.1159/000281825. PMID 20130390.
- "A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease". Nature Genetics. 43 (4): 339–344. 2011. doi:10.1038/ng.782. PMID 21378988.
- Larman BW, Karolak MJ, Adams DC, Oxburgh L (2009). "Chordin-like 1 and twisted gastrulation 1 regulate BMP signaling following kidney injury". J. Am. Soc. Nephrol. 20 (5): 1020–31. doi:10.1681/ASN.2008070768. PMC 2678041. PMID 19357253.
- Coffinier C, Tran U, Larraín J, De Robertis EM (2001). "Neuralin-1 is a novel Chordin-related molecule expressed in the mouse neural plate". Mech. Dev. 100 (1): 119–22. doi:10.1016/s0925-4773(00)00507-4. PMID 11118896.
- Gazzerro E, Canalis E (2006). "Bone morphogenetic proteins and their antagonists". Rev Endocr Metab Disord. 7 (1-2): 51–65. doi:10.1007/s11154-006-9000-6. PMID 17029022.
- Chen D, Zhao M, Mundy GR (2004). "Bone morphogenetic proteins". Growth Factors. 22 (4): 233–41. doi:10.1080/08977190412331279890. PMID 15621726.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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