EFNB1
Encyclopedia
Ephrin-B1 is a protein
that in humans is encoded by the EFNB1 gene
.
Mutations in this protein are responsible for most cases of craniofrontonasal syndrome
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the EFNB1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Mutations in this protein are responsible for most cases of craniofrontonasal syndrome
Craniofrontonasal syndrome
Craniofrontonasal syndrome is an X-linked syndrome which is more severe in females than males. Often males will have only hypertelorism , whereas females have frontonasal dysplasia, craniofacial asymmetry, bifid nasal tip, grooved nails, wiry hair and anomalies of the thoracic skeleton.Most cases...
.