WHSC1L1
Exploring the World of WHSC1L1 Gene: Unraveling Its Significance in Health and Disease
Description
The WHSC1L1 gene, located on chromosome 7q22.1, encodes a protein known as WASH complex subunit 1. This protein plays a crucial role in the formation and regulation of the actin cytoskeleton, which is essential for various cellular processes, including cell motility, polarity, and membrane trafficking.
WASH complex subunit 1 forms a part of the WASH complex, a multi-protein machinery that regulates the function of the Arp2/3 complex, a key player in actin polymerization. By controlling the activity of the Arp2/3 complex, the WASH complex helps to shape and remodel the actin cytoskeleton, allowing cells to respond to external cues and perform essential functions.
Associated Diseases
Mutations in the WHSC1L1 gene have been linked to several neurological and developmental disorders, including:
- X-linked intellectual disability (XLID): This condition is characterized by developmental delay, intellectual impairment, and behavioral problems. Mutations in the WHSC1L1 gene are a common cause of XLID.
- Congenital microcephaly: Infants with microcephaly are born with abnormally small head circumference. WHSC1L1 mutations can result in this condition, leading to impaired brain development.
- Hydrocephalus: Accumulation of cerebrospinal fluid in the brain, leading to enlargement of the head. WHSC1L1 mutations can cause hydrocephalus by disrupting the flow of cerebrospinal fluid.
- Autism spectrum disorder (ASD): WHSC1L1 mutations have been implicated in some cases of ASD, a condition characterized by social and communication difficulties.
Did you Know ?
- WHSC1L1 mutations are estimated to affect approximately 1 in 50,000 males.
