ALAD (aminolevulinate dehydratase)

2011-12-01  

Identity

HGNC
ALAD
LOCATION
9q32
LOCUSID
210
ALIAS
ALADH,PBGS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 210
MIM: 125270
HGNC: 395
Ensembl: ENSG00000148218

Variants:

dbSNP: 210
ClinVar: 210
TCGA: ENSG00000148218
COSMIC: ALAD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148218ENST00000409155P13716
ENSG00000148218ENST00000409155A0A140VJL9
ENSG00000148218ENST00000445750B7ZBK8
ENSG00000148218ENST00000448137B7ZBK6
ENSG00000148218ENST00000452726B7ZBK7

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Porphyrin and chlorophyll metabolismKEGGko00860
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolic pathwaysKEGGhsa01100
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of porphyrinsREACTOMER-HSA-189445
Heme biosynthesisREACTOMER-HSA-189451
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
189364362009Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.42
114273992001Delta-aminolevulinic acid dehydratase genotype and lead toxicity: a HuGE review.41
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
204067592010Association between blood lead and the risk of amyotrophic lateral sclerosis.30
173668162007Lead and delta-aminolevulinic acid dehydratase polymorphism: where does it lead? A meta-analysis.28
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25
113351872001Associations of blood pressure and hypertension with lead dose measures and polymorphisms in the vitamin D receptor and delta-aminolevulinic acid dehydratase genes.24
182715132008Kinetics and thermodynamics of the interchange of the morpheein forms of human porphobilinogen synthase.23
128968552003Amyotrophic lateral sclerosis, lead, and genetic susceptibility: polymorphisms in the delta-aminolevulinic acid dehydratase and vitamin D receptor genes.21
171643782006Lead, genetic susceptibility, and risk of adult brain tumors.21

Citation

Dessen P

ALAD (aminolevulinate dehydratase)

Atlas Genet Cytogenet Oncol Haematol. 2011-12-01

Online version: http://atlasgeneticsoncology.org/gene/52501/alad