Species Human Entrez 91851 | Human Mouse Ensembl ENSG00000101938 | |
Aliases CHRDL1, chordin-like 1, CHL, MGC1, MGCN, NRLN1, VOPT, dA141H5.1, chordin like 1 External IDs MGI: 1933172 HomoloGene: 12834 GeneCards: CHRDL1 | ||
Chordin-like 1 is a protein that in humans is encoded by the CHRDL1 gene.
Contents
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.
Clinical significance
Mutations in CHRDL1 are associated to Neuhäuser Syndrome , X-linked megalocornea and central corneal thickness .
References
Chordin-like 1 Wikipedia(Text) CC BY-SA