l1cam การใช้

• The disorder has been associated with mutations in the L1CAM gene.
• Hirschsprung's disease has also been linked to a L1CAM malfunction.
• L1CAM gene is located in the long arm of X chromosome in Xq28 position.
• Ig-like domains are implicated in many homophilic interactions with other L1CAM proteins located in adjacent cells.
• L1CAM molecules interact via the Ig ( 1-4 )-like domains, allowing cell to cell adhesion.
• This conformation is essential for L1CAM being able to interact with other molecules and subsequently performing some of its most important functions.
• Neurofascin is an L1 family immunoglobulin cell adhesion molecule ( see L1CAM ) involved in axon subcellular targeting and synapse formation during neural development.
• The human L1CAM gene is found in X chromosome regions that are responsible for different neuromuscular diseases, and near the one associated with mental retardation.
• Ankyrin-L1CAM interaction is involved in the growth cone initiation, consequently, a failure in this interaction causes neurites to not reach synaptic target.
• Although the pathological mechanisms leading to L1syndrome are still unknown, about 200 mutations of the L1CAM gene have been identified and then associated with the syndrom.
• The term " CRASH ", for " corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus " has also been used to describe L1CAM-related disorders.
• As a consequence, mutations in the L1CAM gene cause the mental retardation, hydrocephalus and flexion deformity of the thumbs are some of the symptoms expressed mostly in male individuals who suffer from this condition.
• L1CAM is capable of folding into a horseshoe configuration by the establishment of homophilic interactions within Ig-like domains of the same protein ( the first and the second Ig motifs folding back onto the 4th and 3rd motifs ).
• Ankyrin interaction with L1CAM is an example of a protein binding that fails in CRASH patients due to a mutation that causes leucine and histidine to replace serine and tyrosine respectively, in the SFIGQY motif, where aknkyrin should be binded in the L1CAM family cytoplasmic terminus.
• Ankyrin interaction with L1CAM is an example of a protein binding that fails in CRASH patients due to a mutation that causes leucine and histidine to replace serine and tyrosine respectively, in the SFIGQY motif, where aknkyrin should be binded in the L1CAM family cytoplasmic terminus.
• Due to its involvement in neuronal development and axon guidance, it has been proposed that L1CAM and L1-family proteins may be useful therapeutics to treat tissue damage in the CNS . Some have even proposed that L1CAM expression is elevated in vivo during tissue repair, which would support the notion that it yields benefit during CNS tissue repair.
• Due to its involvement in neuronal development and axon guidance, it has been proposed that L1CAM and L1-family proteins may be useful therapeutics to treat tissue damage in the CNS . Some have even proposed that L1CAM expression is elevated in vivo during tissue repair, which would support the notion that it yields benefit during CNS tissue repair.