HEM2_HUMAN

Source: hRBCD ; ID: IPI00010314
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)

Gene names: ALAD
Protein names and data: HEM2_HUMAN , Delta-aminolevulinic acid dehydratase; ALADH; 4.2.1.24 , Porphobilinogen synthase Lenght: 330 a.a.
Mass: 36295 Da
fasta formatted sequence

Function: Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen.
Catalytic activity: 2 5-aminolevulinate = porphobilinogen + 2 H(2)O.
Pathway: Porphyrin-containing compound metabolism; protoporphyrin- IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 1/4.
Disease:

Genetic variants

There are two common alleles of ALAD. Individuals heterozygous or homozygous for ALAD*2 Asn-59 have significantly higher blood lead levels than do ALAD*1 Lys-59 homozygotes when exposed to environmental lead.

Database cross-references

UniProt: P13716
Ensembl: ENST00000409155
MIM: 125270
MIM: 612740
neXtProt: NX_P13716
Antibodypedia: P13716 (may not find the protein thus also not any antibody)
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