1. 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

2. 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

3. 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

4. References http://ghr.nlm.nih.gov/gene/ASPM
el/abnmlsp1.htm