Function Of Genes Flashcards
What is the function of the beta chain?
The beta chain provides beta globin proteins to help RBCs carry out it’s function
What is the function of the CTFR gene?
CFTR helps to regulate flow of Cl and Na in and out of the cell membranes in the lungs and other organs
What is the function of the BLM gene?
The function of the BLM gene is to maintain structure of DNA when copied and repairs damaged DNA
What is the function of the HTT gene?
HTT provides instructions for the production of huntingtin protein.
repeated expansion of CAG and encodes the amino acid glutamine
Function of Factor V
FVa gets activated by thrombin to form calcium-dependent complexes.
This is to help promote more production of thrombin.
What is the function of Factor IXa
formed by the activation of FVa & FVIIIa by thrombin.
It activates FXa to produce more thrombin.
What is the function of 1 alpha hydroxylase?
Increases calcium absorption.
converts precursor of Vit D to active Vit D.
What is the function of Von Willebrand factor?
Released from Weibel- Palade Body when it is activated.
binds to collagen, allows platelets that have vWF receptors to bind to it and activate the platelet
What is the function of Factor VIII
It’s a co-factor that is activated by thrombin.
It causes it to form calcium ion dependent complexes on platelets.
What is the function of the MMR gene?
MMR corrects DNA polymerase errors that could arise during DNA replication
What is the function of the ATM gene?
involved in DNA repair & regulate cell cycle
What is the function of the β-Globin Gene
It is a subunit used to make protein for the haemoglobin to have carry out its function
What is the function of the BRCA 1 and 2 gene
Produce proteins that help repair damaged DNA
