What does this protein make up or do? Chapter 1: Chromosome 1 DNA Sequence Chromosome 62,568 Name of Protein 1 Name of Gene Abnormal spindle-like microcephaly –associated protein-like microcephaly-as ASPM transcription What does this protein make up or do? The ASPM gene provides instructions for making a protein that is involved in cell division Amino acid sequence mRNA 3477 translation Cytoplasm A Cell Nucleus Condition/Disease Abnormal spindle-like microcephaly –associated protein-like

Description of abnormal spindle The expressed protein product of the asp gene is essential for normal mitotic spindle function in embryonic neuroblasts. Asp binds at or near the microtubule minus ends of both the spindle poles and the central spindle. At the spindle poles, Asp may cross-link the microtubules, ensuring both their focusing into polarized arrays and their attachment to centrosomes after release from these nucleating centers

Description of abnormal spindle Almost all of the ASPM gene mutations responsible for MCPH reduce production of the ASPM protein. The protein that is produced is shorter than normal and is thought to be partly or wholly nonfunctional. A shortage of functional ASPM protein impairs cell division, especially in neural progenitor cells in the developing brain

References http://ghr.nlm.nih.gov/gene/ASPM http://www.sdbonline.org/sites/fly/cytosk el/abnmlsp1.htm