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Protein-coding gene in humans From Wikipedia, the free encyclopedia
Chordin-like 1 is a protein that in humans is encoded by the CHRDL1 gene.[5] Chordin-Like 1 (CHRDL1) is a structural glycoprotein that sits on the X chromosome and specifically encodes Venotropin, which is an antagonistic protein to bone morphogenic protein 4.[6]
CHRDL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | CHRDL1, chordin-like 1, CHL, MGC1, MGCN, NRLN1, VOPT, dA141H5.1, chordin like 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 300350; MGI: 1933172; HomoloGene: 12834; GeneCards: CHRDL1; OMA:CHRDL1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[5]
CHRDL1 plays important roles in processes such as embryonic cell differentiation, osteogenesis, neurogenesis, tumor and metastasis suppression, and retinal formation.[7][8] The highest expression of this gene is found in the anterior eye segment and retina as well as in the cerebellum and neocortex.[6] In the neocortex, it peaks at the time of synapse maturation to allow for proper synaptic formation.[9] Therefore, this gene is important in proper formation of the central nervous system and the eyes.
Mutations in CHRDL1 are associated to Neuhäuser Syndrome, X-linked megalocornea and central corneal thickness.[10]
Mutations in this gene may cause a variety of effects on the aforementioned processes. One potential outcome of a CHRDL1 mutation is non-syndromic X-linked megalocornea (XMC) that results from either a missense, nonsense, or frameshift mutation of the gene.[6] XMC is an enlargement of the anterior segments of the eye that may lead to other issues such as cataracts and glaucoma.[6] Another potential outcome is carcinogenic formation. Since CHRDL1 is a tumor and metastasis suppressor, a mutation in this gene may lead to tumor cell formation.[8] The most major effect a mutation could have is on synaptic stabilization. Since the gene limits synaptic plasticity, a mutation may cause issues in proper synapse maturation, leading to a variety of neurological disorders.[9] There is currently a knockout model for this gene that shows disruption may cause altered synaptic events and reduced synaptic GluA2 AMPARs leading to reduced plasticity.[9]
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