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

in #steemstem7 years ago

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.

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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

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!

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 :)