Chordin-like 1

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
Identifiers
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
Gene location (Human) Chr. X chromosome (human)[1] Band Xq23 Start 110,673,856 bp[1] End 110,795,819 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X F2 Start 142,068,670 bp[2] End 142,177,258 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in decidua vena cava parietal pleura saphenous vein urethra pericardium germinal epithelium seminal vesicula skin of hip gastric mucosa Top expressed in sciatic nerve epithelium of lens white adipose tissue ciliary body vestibular sensory epithelium iris intercostal muscle carotid body lumbar spinal ganglion subcutaneous adipose tissue More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 91851 83453 Ensembl ENSG00000101938 ENSMUSG00000031283 UniProt Q9BU40 Q920C1 RefSeq (mRNA) NM_001143981 NM_001143982 NM_001143983 NM_145234 NM_001114385 NM_031258 NM_001358592 RefSeq (protein) NP_001137453 NP_001137454 NP_001137455 NP_660277 NP_001354133 NP_001354134 NP_001354135 NP_001354136 NP_001354137 NP_001354138 NP_001107857 NP_112548 NP_001345521 Location (UCSC) Chr X: 110.67 – 110.8 Mb Chr X: 142.07 – 142.18 Mb PubMed search [3] [4]
Wikidata
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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.^[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.

Clinical significance

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 increased plasticity.^[9]