HSAL4 |
HSAS1 |
X-linked severe combined immunodeficiency |
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An acronym standing for 'hydrocephalus due to congenital stenosis of aqueduct of Sylvius'. This human gene (called also HSAS1) encodes the neural recognition protein L1CAM (CD171). Aberrant splicing causing partial deletions or insertions have been shown to underly X-linked hydrocephalus, the most common form of inherited hydrocephalus, with spastic paraplegia and mental retardation being the most common manifestations. (Rosenthal et al, 1992). The particular site of mutations in the extracellular immunoglobulin or fibronectin domains of the protein has been shown to influence infant mortality and the severity of X linked hydrocephalus (Michaelis et al, 1998). See: CRASH syndrome.
For additional information on CD antigens see also:
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