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GeneQ17816567· pop 8· linked from 343 articles

Also known as ALADH, PBGS, aminolevulinate dehydratase, ALA dehydratase

protein-coding gene in the species Homo sapiens

Gene data

ALAD
Name
aminolevulinate dehydratase
Type
protein-coding
Position
113,386,304–113,401,356 (−)
Aliases
ALADH, PBGS
RefSeq RNA
NM_000031.6, NM_001003945.3, NM_001317745.2, XM_011518364.3, XM_047422944.1
RefSeq protein
NP_000022.3, NP_001003945.1, NP_001304674.1, XP_011516666.1, XP_047278900.1

The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015].

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Gene · Ensembl

aminolevulinate dehydratase

Symbol
ALAD
Biotype
Protein coding
Organism
Homo sapiens
Location
9:113,386,304-113,401,356
Strand
Reverse (−)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Image
ALADwithZinc 1ylv ALADwithLead 1qnv.png
Show 7 more facts
HomoloGene ID
16
found in taxon
Homo sapiens
genomic end
113401290
genomic start
113386312
cytogenetic location
9q32
Sources (6)

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