Background: Microcephaly is a genetic disorder in which the affected individual has a head circumference less than three standard deviations below the sex- and age-related mean. The reason for the reduced head circumference is due to the formation of a small brain of normal proportions; all affected individuals are mentally retarded. ASPM (for abnormal spindle homolog, microcephaly associated), also designated microcephaly, primary autosomal recessive 5 (MCPH5), is caused by mutation in the ASPM gene. In a comprehensive mutation screen of the ASPM gene, 19 mutations were identified in a cohort of 23 consanguineous families. The mutations occur throughout the gene and are all assumed to be protein truncating. Research demonstrates that phenotypic variation in 51 affected individuals occurrs in the degree of microcephaly (five to 11 SDs below normal) and of mental retardation (mild to severe), but appeared to be independent of mutation position in the gene.
Description: Rabbit polyclonal to ASPM
Immunogen: KLH conjugated synthetic peptide derived from ASPM
Specificity: ·Reacts with Human, Mouse and Rat.
·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 410 kDa;
·Immunohistochemistry (Paraffin/frozen tissue section): 1/100-500;
·Immunocytochemistry/Immunofluorescence: 1/100;
·Immunoprecipitation: 1/50;
·ELISA: 1/500;
·Optimal working dilutions must be determined by the end user.
