Literature summary for 2.5.1.61 extracted from

Ulbrichova-Douderova, D.; Martasek, P.
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis (2009), Anal. Biochem., 395, 41-48.

Search for more literature for 2.5.1.61

Application

Application	Comment	Organism
diagnostics	melting properties of mutant enzymes are used to diagnose acute intermittent porphyria in symptomatic and asymptomatic carriers with the high-resolution melting method	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A226P	c.675delA (p.Ala226ProfsX28)	Homo sapiens
E250D	c.750A>T (p.Glu250Asp)	Homo sapiens
G24S	c.70G>A (p.Gly24Ser)	Homo sapiens
H300L	c.899_900delinsTGCCTGCATCTG (p.His300LeuFsX10)	Homo sapiens
additional information	the commonly known variations g.-64T/C (rs589925), g.3581A/G (rs17075), g.6479T/G (rs1131488), and g.7064C/A (rs1784304) are detected by the high-resolution melting method, and also the identified DNA alternations c.76C>T (p.Arg26Cys), c.77G>A (p.Arg26His), c.95G>C (p.Arg32Pro), c.176C>T (p.Thr59Ille), a complex monoallelic mutation c.[518G>A; c.610C>A] (p.[Arg173Gln;p.Gln204Lys]), c.675delA (p.Ala226ProfsX28), c.750A>T (p.Glu250Asp), c.771+1G>T (r.spl?), c.965_966insA (p.Asn322LysfsX36), and c.972_973insG (p.Arg325AlafsX33) can be identified, additionally the alterations g.2922T>G, g.3059G>A, g.3119T/G (rs1006195), c.70G>A (p.Gly24Ser), c.87+5G>T (r.spl?), c.[518G>A;c.610C>A] (p.[Arg173Gln, p.Gln204Lys]), g.7175A>G, c.899_900delinsTGCCTGCATCTG (p.His300LeuFsX10), g.7998G/A (rs1799997) are identified in 97 subjects	Homo sapiens
N322K	c.965_966insA (p.Asn322LysfsX36)	Homo sapiens
R26C	c.76C>T (p.Arg26Cys)	Homo sapiens
R325A	c.972_973insG (p.Arg325AlafsX33)	Homo sapiens
R32P	c.95G>C (p.Arg32Pro)	Homo sapiens
R73Q/Q204K	a complex monoallelic mutation c.[518G>A; c.610C>A] (p.[Arg173Gln;p.Gln204Lys])	Homo sapiens
T59I	c.176C>T (p.Thr59Ille)	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
4 porphobilinogen + H2O	Homo sapiens	-	hydroxymethylbilane + 4 NH3	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P08397	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4 porphobilinogen + H2O	-	Homo sapiens	hydroxymethylbilane + 4 NH3	-	?

Synonyms

Synonyms	Comment	Organism
HMBS	-	Homo sapiens
hydroxymethylbilane synthase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	acute intermittent porphyria is characterized by a partial deficiency in the enzyme, the third enzyme in heme biosynthesis	Homo sapiens

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Release 2023.1 (January 2023)