WDR62

WDR62

WDR62 is a gene that encodes a protein called WD repeat-containing protein 62. This protein is involved in various cellular processes and has been found to play a crucial role in brain development. Mutations in the WDR62 gene have been associated with a rare genetic disorder known as primary microcephaly.

Discovery

The WDR62 gene was first identified in 2004 through a study that aimed to identify genes involved in brain development. Researchers found that mutations in this gene were associated with microcephaly, a condition characterized by a significantly smaller head size and intellectual disability.

Structure and Function

The WDR62 gene is located on chromosome 19 in humans. It consists of 32 exons and encodes a protein with multiple WD40 repeat domains. WD40 repeats are structural motifs that are involved in protein-protein interactions. The WDR62 protein is thought to play a role in regulating cell division and proliferation during brain development.

Role in Brain Development

Studies have shown that the WDR62 protein is primarily expressed in the developing brain, particularly in regions responsible for neurogenesis. Neurogenesis is the process by which new neurons are generated in the developing brain. The WDR62 protein is believed to be involved in the regulation of this process.

Mutations in the WDR62 gene disrupt normal brain development, leading to microcephaly. Individuals with mutations in this gene typically have smaller brains and intellectual disabilities. The exact mechanisms by which WDR62 mutations cause these abnormalities are still being investigated.

Clinical Significance

Mutations in the WDR62 gene are associated with primary microcephaly, a condition characterized by a significantly reduced head size at birth. Individuals with primary microcephaly often have intellectual disabilities, delayed development, and other neurological abnormalities. The severity of symptoms can vary widely among affected individuals.

See Also

• Microcephaly
• Neurogenesis
• Genetic Disorder