Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
210
Gene name Gene Name - the full gene name approved by the HGNC.
Aminolevulinate dehydratase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALAD
Synonyms (NCBI Gene) Gene synonyms aliases
ALADH, PBGS
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q32
Summary Summary of gene provided in NCBI Entrez Gene.
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 a
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1800435 C>G Pathogenic, likely-benign Missense variant, coding sequence variant, non coding transcript variant
rs121912980 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs121912981 C>T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs121912982 G>A Pathogenic, uncertain-significance Downstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs121912983 C>T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021588 hsa-miR-142-3p Microarray 17612493
MIRT050633 hsa-miR-19b-3p CLASH 23622248
MIRT527170 hsa-miR-6504-3p PAR-CLIP 22012620
MIRT527169 hsa-miR-4272 PAR-CLIP 22012620
MIRT372415 hsa-miR-8063 PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0003824 Function Catalytic activity TAS 2063868
GO:0004655 Function Porphobilinogen synthase activity IBA 21873635
GO:0004655 Function Porphobilinogen synthase activity IDA 8175643, 11032836
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
125270 395 ENSG00000148218
Protein
UniProt ID P13716
Protein name Delta-aminolevulinic acid dehydratase (ALADH) (EC 4.2.1.24) (Porphobilinogen synthase)
Protein 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. {ECO:0000269|PubMed:11032836, ECO:0000269|PubM
PDB 1E51 , 1PV8 , 5HMS , 5HNR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00490 ALAD 5 326 Delta-aminolevulinic acid dehydratase Domain
Sequence
Sequence length 330
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors
  Heme biosynthesis
Neutrophil degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hemolytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Hypertension Hypertensive disease rs13306026 20123609
Kidney disease Kidney Diseases rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 24631795, 23792432
Meningioma Meningioma, Meningiomas, Multiple, Clear Cell Meningioma rs587776563, rs121434259, rs387906857, rs397509405, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937
View all (3 more)
16140629
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 21799727 ClinVar
Microcystic meningioma Microcystic meningioma 16140629 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Amnesia Associate 22851944
Amyotrophic Lateral Sclerosis Associate 12896855
Anemia Refractory Associate 25955609
Anxiety Disorders Associate 17823382
Brain Neoplasms Associate 16140629, 20798009
Breast Neoplasms Inhibit 28403546
Carcinoma Hepatocellular Associate 35318110
Carcinoma Renal Cell Associate 21799727, 33221754
Cardiovascular Diseases Associate 21293208
Frontotemporal Dementia Associate 25239657