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37 Cards in this Set

  • Front
  • Back

2 3 diphosphoglycerate

Decreases affinity for oxygen



(Binds to deoxygenated Hb to help it release the last of its oxygen and unload'

How is 2,3 bisphosphoglycerate made in RBCs?

Bisphosphoglycerate mutase, which bypassed phosphoglycerate kinase in glycolysis and doesn't produce ATP

Location of mRNA post processing such as intron splicing, 5' methyl guanine capping, 3' poly A tail,

All in nucleus

P bodies

MRNA Related, cytosol

Bilateral lens subluxation (dislocated), massive stroke (thrombosis), marfanoid habitus, osteoporosis

Deficiency of cystathione synthetase, requires B6 (pyridoxine) cofactor



Homocystinuria, supplement with B6

N-acetyglutamate

Activates carbamoyl phosphate synthase I, which makes carbamoyl phosphate (from CO2, ammonia, ATP) in the first step of urea cycle



Defect leads to ammonia build up, seizures, lethargy


Rheumatoid arthritis diagnosis (most specific)


Anti-cyclic citrullinated peptide (anti-CCP)



Tissue inflammation causes arginine residues in proteins such as vimentin to be converted into citrulline

5' to 3' exonuclease activity

DNA polymerase I



Exonuclease is excision of RNA primer and proofreading

ApoE3 and ApoE4 defect

Chylomicrons and VLDL, bind to hepatic Apo receptors



Defect is chylomicron accumulation (type 3 hyperlipoproteinemia)

ApoB-100

LDL

ApoC-II defect

Lipoprotein lipase defect


Type I: increased chylomicrons, TG, cholesterol



Pancreatitis, eruptive xanthomas, creamy supernatant layer

ApoA-I defect

Low HDL, increased free circulating cholesterol



ApoA-I needed for cholesterol esterification (decreases water solubility) by lecithin-cholesterol acyltransferase (LCAT)

ApoB-48

Chylomicron assembly and secretion by intestines

ApoB100

LDL particle uptake by extra hepatic cells

Pantothenic acid

coenzyme A



Need for oxaloacetate to citrate in TCA cycle

Glucokinase

Only in beta cell of pancreas

Glucokinase

Only in beta cell of pancreas

Hexokinase

Glucose to G6P, all cells except pancreas

Beta thalassemia

Transcription, processing and translation (NOT PROTEIN FOLDING) of mRNA

Supplement for orotic aciduria with megaloblastic anemia

Uridine

Dry skin, hepatosplenomegaly, liver tox, hair loss, visual changes, hair loss

Vitamin A OVERDOSE

Cheilosis (cracked lips), stomatitis (inflamed mouth mucosal), glossitis (smooth tongue) , dermatitis, corneal revascularization

Vitamin B2 riboflavin deficiency

Collagen processing OUTSIDE OF osteoblasts cell (after Golgi transport)

Procollagen peptidases cleave terminal N and C



Concert procollagen into tropocollagen (way less soluble now)



Self assemble into fibrils



Lysyl oxidase form crosslinks

NEUTRAL amino acids in urine, skin rash, ataxia (neuro)

Hartnup disease



Loss of tryptophan leads to niacin deficiency (dermatitis, dementia, diarrhea)



Give niacin (B3)

Homeobox

Morphogenesis, segmental organization, limb locations

High glucose

Depleted cAMP



Inhibit lac operon

Low glucose effect on lac

Increase cAMP (glucagon also increase cAMP)



High cAMP makes cAMP-CAP, positive regulator of lac operon

Receptor tyrosine kinases with INTRINSIC enzyme activity (they are themselves an enzyme that phosphorylates)

MAP-kinase (autophosphoryation, then phosphorylates Ras)



Growth factor receptors: EGF, PDGF, FGF

Receptor tyrosine kinases with INTRINSIC enzyme activity (they are themselves an enzyme that phosphorylates)

Ras MAP-kinase (autophosphoryation, then phosphorylates Ras)



Growth factor receptors: EGF, PDGF, FGF, insulin

Tyrosine kinase associated receptor (not an enzyme themselves), use JAK/STAT

Receptor activated JAK, JAK phosphorylates STAT (signal transducers and activators of transcription)



Cytokines receptors, growth hormone, prolactin, IL-2

JAK STAT

Tyrosine kinase ASSOCIATED receptor

JAK STAT

Tyrosine kinase ASSOCIATED receptor

MAP-Ras kinase

Intrinsic enzyme activity, receptor tyrosine kinase

Indirect bilirubin uptake by liver is

Passive : organic anion transporting polypeptide (OATP)

Indirect bilirubin uptake by liver is

Passive : organic anion transporting polypeptide (OATP)

Direct bilirubin secretion by liver

ATP binding cassette protein (MRP2)



Active secretion



Defective in Rotor syndrome and Dubin Johnson, excess conjugated bilirubin in urine (flows back through passive diffusion through OATP)

Gs path

Increased cAMP leads to active Protein kinase A, leads to increase intracellular calcium and to inhibited myosin life chain kinase