Proteins Flashcards
Major component of the slit diaphragms between adjacent foot processes
Nephrin
Basement membrane antigen responsible for classic anti-GBM antibody GN
Component of the non collagen domain of a3 chain of Collagen type IV
Celiac disease is characterized by immunologic sensitivity to gluten, which contains this water insoluble protein
Gliadin
Produced by fat tissue to counteract pro-inflammatory cytokines. Potential therapeutic agents for the treatment of patients with non-alcoholic fatty liver disease
Adiponectin
Iron hormone produced by the liver which normally downregulates the efflux of iron from intestines and macrophages into the plasma. Levels are decreased in hereditary hemochromatosis
Hepcidin
Membrane protein expressed by larger pancreatic ducts; aberrant expression affects viscosity of pancreatic secretions
Cystic fibrosis transmembrane conductance regulators
Exocrine products of the pancreas are secreted as inert proenzymes except these two.
- Amylase
2. Lipase
Brush border enzyme which cleaves trypsinogen into trypsin; which then catalyzes cleave of the other proenzymes
Enteropeptidase
Trypsin inhibitor secreted by acinar and ductal cells; mutations in genes encoding for this protein causes hereditary pancreatitis
SPINK1
Serine protease inhibitor Kazal type 1
Proteolytic enzyme which increases sperm motility by maintaining seminal secretions in a liquid state
Prostate specific antigen
This angiogenic factor is decreased in pre-eclampsia while this anti-angiogenic factor is increased.
Decreased VEGF
Increased sFlt1
In Alzheimer’s disease, accumulation of this peptide in the brain initiates a chain of events that result in dementia and disease. This peptide is derived from a larger membrane protein called ___.
B amyloid derived from
Amyloid precursor protein (APP)
This protein is hyperphosphorylated in Alzheimer’s and aggregate into tangles.
Tau protein
Lewy body seen in Parkinson Disease is an inclusion containing ___.
a-synuclein
5 - 10% of Lou Gehrig’s disease is familial, characterized by a mutations in a gene on chromosome 21 encoding a form of this enzyme.
Superoxide dismutase
Mutations in this gene lead to a gain-of-function phenotype that causes misfolding of protein leading to apoptosis.
In neurofibromatosis type 1, gene (17q11.2) encoding for this protein is mutated. This protein is normally an inhibitor of the ras protooncogene
Neurofibromin
In neurofibromatosis type 2, mutation in 22q1.11 leads to production of a mutant form of this tumor suppressor protein.
Merlin or schwannomin
Tuberous sclerosis may result from mutations in two chromosomes which produce these two proteins which bind to one another and act as tumor suppressors.
TSC1 (9q34) encodes HAMARTIN.
TSC2 (16p13) encodes TUBERIN.
How does missense mutations in the VHL gene result in adrenal pheochromocytoma and hemangioblastoma
The VHL protein controls angiogenesis, especially in response to hypoxia.
In 70 - 80% of patients with DMI, antibodies against these two proteins are detected and may contribute to islet damage.
Insulin
Glutamic acid decarboxylase
This protein - which is also involved in the aging process - has been shown to improve glucose tolerance, enhance B cell insulin secretion, and increase adiponectin.
Sirtuin (sirt-1)
This protein is a characteristic finding in the islets of patients with type 2 DM; unclear whether is a cause or consequence of cell damage.
Amylin (islet amyloid protein)
MODY-2 is characterized by mutations encoding this enzyme involved in glycolysis.
Glucokinase
In DKA, insulin deficiency leads to activation of ___.
Hormone sensitive lipase giving rise to increased levels of FFAs, oxidation of which produces ketone bodies.
Hereditary angioneurotic edema results from inherited deficiency of ____, yielding uncontrolled activation of the early components of the complement system.
C1 esterase inhibitor
Pemphigus vulgaris is characterized by pathogenic IgG antibodies to these intercellular desmosomal proteins.
Desmoglein types 1 and 3
In bullous pemphigoid, patient has IgG antibodies which react with basal cell-basement membrane attachment plaques (hemidesmosomes) where most of the ___ is located.
BPAG
Bullous pemphigoid antigen
Dermatitis herpetiformis occurs in celiac disease because the antibodies directed against gliadin cross-react with ____, which is a component of the anchoring fibrils that tether epidermal basement membrane to the superficial epidermis.
Reticulin
Gene is on Xp21. Large protein which attaches portions of the sarcomere to the cell membrane, maintaining the structural and functional integrity of skeletal and cardiac myocytes
Dystrophin
HPP is characterized by mutations in the gene for the ___
Skeletal muscle sodium channel protein (SCN4A)
HPP is characterized by mutations in a ___ channel while malignant hyperthermia is characterized by mutations in genes encoding ___ channels.
HPP: Na
MH: Ca
