What is DHPR deficiency?
Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4).
What OMIM tells us?
OMIM is an authoritative full-text overview of genes and genetic phenotypes that can be used by students, researchers and clinicians. Curation of the database and editorial decisions take place at Johns Hopkins University School of Medicine. Authors are located at Johns Hopkins and around the world.
What does Dihydropteridine reductase do?
Dihydropteridine reductase (DHPR) is an enzyme essential for the regeneration of tetrahydrobiopterin, itself a co-factor necessary for the hydroxylation reactions in the brain leading to the synthesis of tyrosine, dopa, noradrenaline and 5-hydroxytryptophan (Fig. 1).
How many diseases are there in OMIM?
OMIM has 450 entries with 5 or more AVs, 210 with 10 or more, 5 with 100 or more, and only 1 with more than 300, the HBB entry (141900). In addition to disease-causing mutations, the AVs include 69 selected polymorphisms with some phenotypic association.
How does DHPR work?
The dihydropyridine receptor (DHPR), normally a voltage-dependent calcium channel, functions in skeletal muscle essentially as a voltage sensor, triggering intracellular calcium release for excitation-contraction coupling.
Where is DHPR?
The DHPR foci are located in longitudinal rows at the intersection of the cell surface with the optical section, and they show a sarcomere-related periodicity (Fig. 1 D, arrowheads).
Is OMIM reliable?
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 16,000 genes.
What is OMIM disease?
What is OMIM? Online Mendelian Inheritance in Man (OMIM®) is a continuously updated catalog of human genes and genetic disorders and traits, with particular focus on the molecular relationship between genetic variation and phenotypic expression.
What type of enzyme is phenylalanine hydroxylase?
Phenylalanine hydroxylase (PAH) (EC 1.14. 16.1) is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine….Phenylalanine hydroxylase.
| PAH | ||
|---|---|---|
| showRNA expression pattern | ||
| showGene ontology | ||
| Orthologs | ||
| Species | Human | Mouse |
What does Hyperphenylalaninemia mean?
Hyperphenylalaninemia is broadly defined as the presence of blood phenylalanine levels that exceed the limits of the upper reference range (2 mg/dL or 120 µmol/L) without treatment but that are below the level found in patients with phenylketonuria (PKU).
What is Omim disease?
What type of database is Omim?
OMIM® – Online Mendelian Inheritance in Man. ® OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 16,000 genes.
