WDR62
Encyclopedia
WD repeat-containing protein 62 is a protein
that in humans is encoded by the WDR62 gene
. Mutations in the WDR62 gene cause of a wide spectrum of severe cerebral cortical malformations including microcephaly
, pachygyria
with cortical thickening as well as hypoplasia of the corpus callosum.
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 WDR62 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 the WDR62 gene cause of a wide spectrum of severe cerebral cortical malformations including microcephaly
Microcephaly
Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...
, pachygyria
Pachygyria
Pachygyria is a congenital malformation of the cerebral hemisphere. It results in unusually thick convolutions of the cerebral cortex. Typically, children have developmental delay and seizures, the onset and severity depending on the severity of the cortical malformation...
with cortical thickening as well as hypoplasia of the corpus callosum.