PEMT
Some search terms matchedMakes an enzyme involved in producing phosphatidylcholine, a component of cell membranes. Genetic findings alone do not establish a choline deficiency.
Also called: Phosphatidylethanolamine N-Methyltransferase, choline, phosphatidylcholine
…
PSEN2
Some search terms matchedPSEN2 encodes a presenilin protein that participates in gamma-secretase, a protein-processing complex. Some pathogenic variants can cause familial Alzheimer’s disease; a listed common marker is not equivalent to that diagnosis.
Also called:…
PTGS2
Some search terms matchedPTGS2, commonly called COX-2, encodes an enzyme involved in prostaglandin production. Prostaglandins participate in pain, fever and inflammatory signaling.
Also called: COX2, Cyclooxygenase 2
COX-2 and inflammatory prostaglandins
PTGS2, com…
SOD2
Some search terms matchedDr.
Also called: Superoxide Dismutase 2
Superoxide defense in its own setting
Dr. Purser teaches SOD as one member of an antioxidant team. SOD2 works in mitochondria and uses manganese. SOD converts superoxide into hydrogen peroxide, which …
SOD3
Some search terms matchedDr.
Also called: Superoxide Dismutase 3
Superoxide defense in its own setting
Dr. Purser teaches SOD as one member of an antioxidant team. SOD3 works outside cells and uses copper and zinc. SOD converts superoxide into hydrogen peroxide, wh…
TCN2
Some search terms matchedTCN2 appears in Dr.
Also called: Transcobalamin II
B12 must be carried as well as consumed
TCN2 appears in Dr. Purser’s homocysteine and methylation map because it concerns the transport of B12. The teaching distinction is between eating or…
TNF
Some search terms matchedTNF encodes tumor necrosis factor, an immune-signaling protein involved in inflammation, host defense and regulation of cell survival. Its name should not be read as proof that a TNF result indicates cancer.
Also called: Tumor Necrosis Fact…
How to read a laboratory report
Some search terms matchedSeparate the gene, variant, measured value and clinical interpretation—and learn which questions to bring to your visit.
Also called:
Keep the original result in view
The uploaded SOPs begin with source verification: the right report, date…
SLC19A1
Some search terms matchedEncodes the reduced folate carrier, a protein involved in transporting folates into cells.
Also called: RFC1, reduced folate carrier, folate transport
Folate transport is part of the story
Dr. Purser’s folate map includes transport as well …
ALPL
Some search terms matchedALPL encodes tissue-nonspecific alkaline phosphatase, an enzyme important to bone and tooth mineralization and vitamin B6 metabolism. Persistently low alkaline phosphatase can deserve a different evaluation from a general nutrient deficienc…
CCL5
Some search terms matchedCCL5, also called RANTES, is a chemokine that helps direct immune-cell movement. Chemokines tell cells where to go, which is different from measuring the total strength of an immune response.
Also called:
RANTES and immune-cell recruitment…
CD40
Some search terms matchedCD40 encodes a receptor that participates in communication between immune cells, including T-cell help for B-cell responses. Its partner is CD40 ligand, encoded by CD40LG.
Also called:
A conversation between immune cells
CD40 encodes a rec…
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