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Items: 8

1.

Phosphorylation

The creation of a phosphate derivative of an organic molecule. This is usually achieved by transferring a phosphate group from ATP via the action of a kinase. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
2.

Primary hyperoxaluria, type I

Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium oxalate crystals that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis / urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD). Age at onset of symptoms ranges from infancy to the sixth decade. Approximately 10% of affected individuals present in infancy or early childhood with nephrocalcinosis, with or without nephrolithiasis, and failure to thrive related to renal failure. The majority of individuals with PH1 present in childhood or early adolescence, usually with symptomatic nephrolithiasis and normal or reduced kidney function. The remainder of affected individuals present in adulthood with recurrent renal stones and a mild-to-moderate reduction in kidney function. The natural history of untreated PH1 is one of progressive decline in renal function as a result of calcium oxalate deposits in kidney tissue and complications of nephrolithiasis (e.g., obstruction and infection) with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD and/or complications of oxalosis. [from GeneReviews]

MedGen UID:
75658
Concept ID:
C0268164
Disease or Syndrome
3.

Tyrosine

A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin. [from MeSH]

MedGen UID:
21746
Concept ID:
C0041485
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
4.

Serine

A non-essential amino acid in humans (synthesized by the body), Serine is present and functionally important in many proteins. With an alcohol group, serine is needed for the metabolism of fats, fatty acids, and cell membranes; muscle growth; and a healthy immune system. It also plays a major role in pyrimidine, purine, creatine, and porphyrin biosynthetic pathways. Serine is also found at the active site of the serine protease enzyme class that includes trypsin and chymotrypsin. (NCI04) [from NCI]

MedGen UID:
11382
Concept ID:
C0036720
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
5.

Dephosphorylation

The catalyzed removal of phosphate groups from biological molecules, by phosphatases. [from NCI]

MedGen UID:
463624
Concept ID:
C3160734
Molecular Function
6.

Mass of body structure

A benign or malignant pathologic structure in any part of the body, resulting from a neoplastic accumulation of cells, inflammatory cells, or cystic changes. [from NCI]

MedGen UID:
108287
Concept ID:
C0577559
Finding
7.

Casein

A mixture of related phosphoproteins occurring in milk and cheese. The group is characterized as one of the most nutritive milk proteins, containing all of the common amino acids and rich in the essential ones. [from MeSH]

MedGen UID:
794
Concept ID:
C0007332
Amino Acid, Peptide, or Protein; Pharmacologic Substance
8.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
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