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 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
Cell adhesion is the process by which cells interact and attach to neighbouring cells through specialised molecules of the cell surface. This process can occur either through direct contact between cell surfaces such as cell junctions or indire ...
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
Advocates for Informed Choice, doing business as, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex trai ...
with
SDCBP.
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
External links
*
*
Genes on human chromosome X
{{gene-X-stub