WBP5
The WBP5 Gene: Unveiling Its Role in Health and Disease
Description
The WBP5 gene, also known as WW domain-binding protein 5, is located on chromosome 12q24.23. It encodes a protein called WBP5, which is involved in regulating gene expression. WBP5 interacts with various proteins, including WW domain-containing proteins and SMADs, to mediate signal transduction pathways.
Associated Diseases
Mutations in the WBP5 gene have been linked to several diseases:
- Intellectual disability: Mutations in WBP5 are associated with a range of intellectual disabilities, including Smith-Lemli-Opitz syndrome (SLOS) and microcephaly.
- Autism spectrum disorder (ASD): Studies have found an association between WBP5 variants and ASD.
- Congenital heart defects: Mutations in WBP5 have been linked to congenital heart defects, such as atrial septal defects and patent ductus arteriosus.
Did you Know ?
According to a large-scale study, approximately 1 in 5000 individuals carry a mutation in the WBP5 gene. This highlights the prevalence of WBP5-related disorders in the population.
