With this entry, I'm starting a new series of posts: the Autism-Related Gene Spotlight series.
Each post will talk about a different gene that's been identified as possibly having something to do with autism, and will follow more or less the same format.
I ask, and answer, five questions about the gene I'm spotlighting:
1) Where is it? - which chromosome, approximately where on the chromosome, how much space it takes up
2) What does it do? - which should probably read "What does the protein it encodes do," since genes typically don't do things themselves, but rather direct the synthesis of proteins which do things, but whatever.
3) What mutant versions of this gene have been discovered?
4) How do the mutations referred to in 3) affect the expression, structure and function of the gene's protein product?
and 5) How common are each of the mutations identified in 3)?
I will also link to whatever database entries I can find for the gene, so that readers with the training to decipher this stuff on their own can go have a look for themselves.
I'm excited about this series because this is the kind of stuff I studied in college, and I really love feeling like I understand things --- physical processes --- at the smallest level of detail. It's like when you're drawing a picture of something from life --- a tree or a flower, say --- and you've got the overall shape of it sketched out but you have to move in closer to see the details, to know what sort of texture to give the surfaces, and you see another layer of structure, something you couldn't see from farther away but which makes what you had perceived as texture make sense now that you see more of what it's doing.
I'll try to keep the jargon to a minimum, and provide explanations of whatever comes up that needs explaining (in the last post, I had to greatly expand my "What does [SLC4A10] do?" section to explain some things about acid-base chemistry, active transport and the special role ions play in "excitable" cells like neurons), but let me know if my attempts at making this stuff accessible don't go far enough.