RE: Understanding: What The Heck Is A 'Genetic Disease'?

[justtryme90]

2 million different proteins gives a bad picture, this is only the upper theoretical limit for how many different proteins our DNA COULD code for.

No, it creates the thought I was going for, that there are a massive variety of different proteins all with unique function. Beyond this we have about 17000 protein coding genes (that we know of), however splice variants alone I dictate the varieties of protein to be in the 100,000s so I don't feel the theoretical limit is all that misleading.

Comments

[clausewitz]

In fact there are many many varieties, in your body there are more than two million, completely unique types!

There are 17,000 proteins and possibly a few thousands more, PTS and splice variants change nothing of what you stated since they are not uniqe types.

Just making it clear!

thanks!

[justtryme90]

PTS and splice variants change nothing of what you stated since they are not unique types.

They are unique types. Enzymatic function (in the case of an enzyme...) will likely not change but cellular localization, or complex binding function can drastically differ. A protein +/- it's NLS is a very different thing, despite the similar enzyme function.

I disagree with your suggested correction.

[clausewitz]

Yeah you are free to define unique types as u like! I merely clarify how many different proteins is expressed in our body according to classic biochemical definition, iso-forms and PTS mods are defined as the same protein, as for splicing goes the same thing as long as conformation is preserved, affinity for different binding sites etc change no classifications :)

Thanks for answering

[clausewitz]

I like your context and there are no contradictions :) just saw it as a bit unclear when it came to the number of unique proteins and now anyone who wonders can check!

[clausewitz]

https://en.wikipedia.org/wiki/Protein_isoform

AMPK have different subunits in different cells.
In human skeletal muscle, the preferred form is α2β2γ1, But in the human liver, the most abundant form is α1β2γ1.
So even when subunit composition and thereby massive conformational differences is seen, its still the same protein :)

[clausewitz]

I would even state that most alternatively spliced expressions result in common iso-forms with the same function!

i´ve done exon skipping in drosophila resulting in 3 identical structures and the rest unexpressed :)