PRKCDBP
PRKCDBP Gene: A Comprehensive Guide
Introduction
The PRKCDBP gene plays a crucial role in various cellular processes, including cell growth, differentiation, and metabolism. Its mutations have been associated with several diseases, making it an important target for research.
Description
The PRKCDBP (Protein Kinase C Delta Binding Protein) gene is located on chromosome 1q25.1 and encodes a protein known as the protein kinase C delta (PKCδ) binding protein. PKCδ is an enzyme that participates in signal transduction pathways, regulating cellular responses to external stimuli.
Associated Diseases
Mutations in the PRKCDBP gene have been linked to a number of diseases, including:
- Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2): A rare genetic disorder characterized by progressive loss of sensation in the peripheral nervous system.
- Congenital Myasthenia: A rare neuromuscular disorder that affects muscle development and function.
- Microcephaly: A condition marked by an unusually small head size at birth.
- Autism Spectrum Disorder (ASD): A developmental disorder that affects social interactions, communication, and behavior.
Did you Know ?
Mutations in the PRKCDBP gene account for approximately 10% of cases of HSAN2.
