WDR72
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WD repeat-containing protein 72 is a
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''WDR72''
gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
. WDR72 contains 7
WD40 repeat The WD40 repeat (also known as the WD or beta-transducin repeat) is a short structural motif of approximately 40 amino acids, often terminating in a tryptophan-aspartic acid (W-D) dipeptide. Tandem copies of these repeats typically fold togethe ...
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 imperfecta Amelogenesis imperfecta (AI) is a congenital disorder which presents with a rare abnormal formation of the Tooth enamel, enamel or external layer of the crown of teeth, unrelated to any systemic or generalized conditions. Enamel is composed mostly ...
.


References


Further reading

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