Ephrin B1 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, res ...
that in humans is encoded by the ''EFNB1''
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 ...
.
It is a member of the
ephrin family. The encoded protein is a
type I membrane protein
A single-pass membrane protein also known as single-spanning protein or bitopic protein is a transmembrane protein that spans the lipid bilayer only once. These proteins may constitute up to 50% of all transmembrane proteins, depending on the orga ...
and a ligand of Eph-related
receptor tyrosine kinases
Receptor tyrosine kinases (RTKs) are the high- affinity cell surface receptors for many polypeptide growth factors, cytokines, and hormones. Of the 90 unique tyrosine kinase genes identified in the human genome, 58 encode receptor tyrosine kinas ...
. It may play a role in
cell adhesion and function in the development or maintenance of the nervous system.
Clinical significance
Mutations in this protein are responsible for most cases of
craniofrontonasal syndrome.
Interactions
EFNB1 has been shown to
interact with
SDCBP
Syntenin-1 is a protein that in humans is encoded by the ''SDCBP'' gene.
Function
The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains ta ...
.
References
Further reading
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External links
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Genes on human chromosome X
{{gene-X-stub