WDR72
Encyclopedia
WD repeat-containing protein 72 is a protein
that in humans is encoded by the WDR72 gene
. WDR72 contains 7 WD40 repeat
s, which are predicted to form the blades of a 7 beta propeller structure.
.
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 WDR72 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...
. WDR72 contains 7 WD40 repeat
WD40 repeat
The WD40 repeat is a short structural motif of approximately 40 amino acids , often terminating in a tryptophan-aspartic acid dipeptide...
s, which are predicted to form the blades of a 7 beta propeller structure.
Clinical significance
Mutations in this gene cause autosomal-recessive hypomaturation amelogenesis imperfectaAmelogenesis imperfecta
Amelogenesis imperfecta presents with abnormal formation of the enamel or external layer of teeth. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it...
.