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FLASH GENE

Symbol

ALAD

contributors: npt/ - updated : 13-11-2006

HGNC name	aminolevulinate, delta-, dehydratase
HGNC id	395

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ALADD ALAD deficiency
Location	9q32      Physical location : 116.148.592 - 116.163.618
Synonym name	porphobilinogen synthase
	delta-aminolevulinic acid dehydratase
Synonym symbol(s)	MGC5057, ALADH, PBGS
EC.number	4.2.1.24

DNA

TYPE	functioning gene
STRUCTURE	15.03 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000031 12 - 3317 NP_000022 - 330 - -

EXPRESSION

Type

widely

constitutive of

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver       highly   mouth tongue     moderately   stomach       moderately Lymphoid/Immune spleen       highly Nervous brain       moderately Reproductive female system placenta     moderately   female system breast mammary gland   moderately   male system prostate       Urinary bladder       moderately   kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erythroblast

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a catalytic domain

secondary structure

an alpha 1 helix at the N terminus

mono polymer

homomer , dimer , hexamer

HOMOLOGY

interspecies	ortholog to murine Alad
	ortholog to rattus Alad

Homologene

FAMILY

ALADH family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION

catalyzing the condensation of two molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins)

CELLULAR PROCESS

protein, translation/synthesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

porphyrin/heme

signaling

second step of porphyrin and heme biosynthesis

a component

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	Zn2+

protein

cell & other

REGULATION

inhibited by

lead

ASSOCIATED DISORDERS

corresponding disease(s)

ALADD

Susceptibility

to lead poisoning

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS