Chordin-like 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the CHRDL1
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
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.
Function
This gene encodes an antagonist of
bone morphogenetic protein 4
Bone morphogenetic protein 4 is a protein that in humans is encoded by ''BMP4'' gene. BMP4 is found on chromosome 14q22-q23.
BMP4 is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamil ...
. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal
angiogenesis in response to
hypoxia.
Alternatively spliced
Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins. In this process, particular exons of a gene may be i ...
transcript variants encoding different isoforms have been described.
CHRDL1 plays important roles in processes such as embryonic cell differentiation, osteogenesis, neurogenesis, tumor and metastasis suppression, and retinal formation.
The highest expression of this gene is found in the anterior eye segment and retina as well as in the cerebellum and neocortex.
In the neocortex, it peaks at the time of synapse maturation to allow for proper synaptic formation.
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
Neuhauser is a German surname. Notable people with this surname include:
* Adele Neuhauser (born 1959), Greek-born Austrian actress
* Claudia Neuhauser (born 1962), American mathematical biologist
* Frank Neuhauser (1913–2011), American patent la ...
,
X-linked megalocornea and
central corneal thickness
Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye rem ...
.
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.
XMC is an enlargement of the anterior segments of the eye that may lead to other issues such as cataracts and glaucoma.
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.
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.
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.
References
Further reading
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