Gene ALAD - ENSG00000148218 | NCBI Gene ID: 210

Details for: ALAD

Gene ID: 210

Symbol: ALAD

Ensembl ID: ENSG00000148218

Description: aminolevulinate dehydratase

Associated with

Heme biosynthesis
(R-HSA-189451)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Metabolism
(R-HSA-1430728)
Metabolism of porphyrins
(R-HSA-189445)
Neutrophil degranulation
(R-HSA-6798695)
Catalytic activity
(GO:0003824)
Cellular response to interleukin-4
(GO:0071353)
Cellular response to lead ion
(GO:0071284)
Cytosol
(GO:0005829)
Extracellular exosome
(GO:0070062)
Extracellular region
(GO:0005576)
Ficolin-1-rich granule lumen
(GO:1904813)
Heme a biosynthetic process
(GO:0006784)
Heme b biosynthetic process
(GO:0006785)
Heme biosynthetic process
(GO:0006783)
Heme o biosynthetic process
(GO:0048034)
Identical protein binding
(GO:0042802)
Negative regulation of proteasomal protein catabolic process
(GO:1901799)
Nucleus
(GO:0005634)
Porphobilinogen synthase activity
(GO:0004655)
Proteasome core complex binding
(GO:1904854)
Protein homooligomerization
(GO:0051260)
Protoporphyrinogen ix biosynthetic process
(GO:0006782)
Response to activity
(GO:0014823)
Response to aluminum ion
(GO:0010044)
Response to amino acid
(GO:0043200)
Response to arsenic-containing substance
(GO:0046685)
Response to cadmium ion
(GO:0046686)
Response to cobalt ion
(GO:0032025)
Response to ethanol
(GO:0045471)
Response to fatty acid
(GO:0070542)
Response to glucocorticoid
(GO:0051384)
Response to herbicide
(GO:0009635)
Response to hypoxia
(GO:0001666)
Response to ionizing radiation
(GO:0010212)
Response to iron ion
(GO:0010039)
Response to lipopolysaccharide
(GO:0032496)
Response to mercury ion
(GO:0046689)
Response to methylmercury
(GO:0051597)
Response to oxidative stress
(GO:0006979)
Response to platinum ion
(GO:0070541)
Response to selenium ion
(GO:0010269)
Response to vitamin b1
(GO:0010266)
Response to vitamin e
(GO:0033197)
Response to xenobiotic stimulus
(GO:0009410)
Response to zinc ion
(GO:0010043)
Secretory granule lumen
(GO:0034774)
Zinc ion binding
(GO:0008270)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: anterior lens cell (CL0002223)
Fold Change: 2.01
Marker Score: 2699
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 1.89
Marker Score: 2288
Cell Name: erythroid progenitor cell (CL0000038)
Fold Change: 1.78
Marker Score: 1860.5
Cell Name: proerythroblast (CL0000547)
Fold Change: 1.6
Marker Score: 1087
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 1.48
Marker Score: 3368
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 1.14
Marker Score: 910
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 1.07
Marker Score: 4193
Cell Name: primitive red blood cell (CL0002355)
Fold Change: 1.06
Marker Score: 792
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 1.03
Marker Score: 2430
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71740
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 47964
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30397
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.96
Marker Score: 14997
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.94
Marker Score: 2401
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.94
Marker Score: 979
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.94
Marker Score: 482
Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 0.93
Marker Score: 624
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.93
Marker Score: 437
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2713
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.89
Marker Score: 1887
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5293
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.87
Marker Score: 18507
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.86
Marker Score: 4905
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.86
Marker Score: 308
Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 0.85
Marker Score: 494
Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 0.84
Marker Score: 7259
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.84
Marker Score: 1585.5
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 0.82
Marker Score: 1263
Cell Name: peptic cell (CL0000155)
Fold Change: 0.8
Marker Score: 337
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1265
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.77
Marker Score: 584.5
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.75
Marker Score: 302
Cell Name: erythroid progenitor cell, mammalian (CL0001066)
Fold Change: 0.74
Marker Score: 237
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 0.74
Marker Score: 6986
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 0.73
Marker Score: 6283
Cell Name: erythroblast (CL0000765)
Fold Change: 0.73
Marker Score: 454
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.72
Marker Score: 375
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.72
Marker Score: 44227
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 0.71
Marker Score: 5569
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.71
Marker Score: 228
Cell Name: erythroid lineage cell (CL0000764)
Fold Change: 0.7
Marker Score: 350
Cell Name: Leydig cell (CL0000178)
Fold Change: 0.7
Marker Score: 752
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.7
Marker Score: 26493
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.69
Marker Score: 638
Cell Name: erythrocyte (CL0000232)
Fold Change: 0.69
Marker Score: 381
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.68
Marker Score: 2858
Cell Name: brush cell (CL0002204)
Fold Change: 0.67
Marker Score: 615
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.66
Marker Score: 170
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.65
Marker Score: 6150
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.65
Marker Score: 681
Cell Name: colon epithelial cell (CL0011108)
Fold Change: 0.65
Marker Score: 2030
Cell Name: primordial germ cell (CL0000670)
Fold Change: 0.64
Marker Score: 804
Cell Name: neuron (CL0000540)
Fold Change: 0.64
Marker Score: 2607
Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: 0.64
Marker Score: 351
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 0.64
Marker Score: 6566
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.64
Marker Score: 420
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.62
Marker Score: 11058
Cell Name: hepatoblast (CL0005026)
Fold Change: 0.62
Marker Score: 2015
Cell Name: astrocyte (CL0000127)
Fold Change: 0.61
Marker Score: 530
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.59
Marker Score: 876
Cell Name: hematopoietic precursor cell (CL0008001)
Fold Change: 0.59
Marker Score: 206
Cell Name: keratinocyte (CL0000312)
Fold Change: 0.58
Marker Score: 488
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.57
Marker Score: 180
Cell Name: duct epithelial cell (CL0000068)
Fold Change: 0.57
Marker Score: 268
Cell Name: ovarian surface epithelial cell (CL2000064)
Fold Change: 0.57
Marker Score: 1560
Cell Name: enterocyte (CL0000584)
Fold Change: 0.57
Marker Score: 2747
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.57
Marker Score: 1160
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.57
Marker Score: 141
Cell Name: ciliated cell (CL0000064)
Fold Change: 0.57
Marker Score: 1951
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.57
Marker Score: 2189
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 0.56
Marker Score: 2002
Cell Name: plasmablast (CL0000980)
Fold Change: 0.56
Marker Score: 745
Cell Name: mucous neck cell (CL0000651)
Fold Change: 0.56
Marker Score: 1264
Cell Name: ependymal cell (CL0000065)
Fold Change: 0.56
Marker Score: 194
Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 0.56
Marker Score: 1364
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.55
Marker Score: 146
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.55
Marker Score: 329
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.54
Marker Score: 348
Cell Name: acinar cell (CL0000622)
Fold Change: 0.54
Marker Score: 380
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 0.54
Marker Score: 3433
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.54
Marker Score: 428
Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 0.53
Marker Score: 218
Cell Name: late promyelocyte (CL0002151)
Fold Change: 0.53
Marker Score: 134
Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
Fold Change: 0.53
Marker Score: 258
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 0.53
Marker Score: 19438
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 0.52
Marker Score: 572
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.5
Marker Score: 10013
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.5
Marker Score: 500
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.5
Marker Score: 3841
Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 0.5
Marker Score: 3217
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 0.5
Marker Score: 3711
Cell Name: large pre-B-II cell (CL0000957)
Fold Change: 0.49
Marker Score: 1341.5
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 0.49
Marker Score: 2052
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 0.48
Marker Score: 7201
Cell Name: extravillous trophoblast (CL0008036)
Fold Change: 0.48
Marker Score: 429
Cell Name: midzonal region hepatocyte (CL0019028)
Fold Change: 0.48
Marker Score: 2064
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.47
Marker Score: 2826
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: 0.47
Marker Score: 1159
Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: 0.47
Marker Score: 245
Cell Name: stem cell (CL0000034)
Fold Change: 0.46
Marker Score: 1093

Hover over a box to see details here...

**Key characteristics:** * The ALAD gene is located on chromosome 15q26.1. * It is a single-exon gene with a predicted protein length of 150 amino acids. * ALAD is a highly expressed gene in various cell types, including anterior lens cell, lens epithelial cell, erythroid progenitor cell, proerythroblast, acinar cell of salivary gland, pulmonary interstitial fibroblast, placental villous trophoblast, primitive red blood cell, kidney proximal straight tubule epithelial cell, and cerebral cortex GABAergic interneuron. **Pathways and functions:** * ALAD is involved in the catalytic activity of the enzyme hemin, which is essential for the synthesis of hemoglobin. * It is part of the heme biosynthesis process, which is a complex pathway that involves the formation of various heme-containing compounds, including protoporphyrinogen. * ALAD is also involved in the response to hypoxia and oxidative stress, where it helps to regulate the production of hemin and other oxygen-dependent molecules. **Clinical significance:** * Mutations in the ALAD gene have been linked to several human diseases, including albinism, which is caused by a deficiency of functional hemin. * ALAD inhibitors are being investigated as potential therapeutic agents for these diseases.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Genular Protein ID: 2248547344

Symbol: HEM2_HUMAN

Name: Delta-aminolevulinic acid dehydratase

UniProtKB Accession Codes:

P13716 A8K375 B2R6F2 Q16870 Q16871 Q9BVQ9

Database IDs:

Citations:

PubMed ID: 3463993

Title: Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone.

PubMed ID: 3463993

DOI: 10.1073/pnas.83.20.7703

PubMed ID: 1678509

Title: RsaI polymorphism in the human delta-aminolevulinate dehydratase gene at 9q34.

PubMed ID: 1678509

DOI: 10.1093/nar/19.15.4307-a

PubMed ID: 1569184

Title: Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria.

PubMed ID: 1569184

DOI: 10.1172/jci115732

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 3092810

Title: Identification of lysine at the active site of human 5-aminolevulinate dehydratase.

PubMed ID: 3092810

DOI: 10.1042/bj2360447

PubMed ID: 1769358

Title: The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes.

PubMed ID: 1769358

DOI: 10.1016/s0013-9351(05)80001-5

PubMed ID: 11032836

Title: The molecular mechanism of lead inhibition of human porphobilinogen synthase.

PubMed ID: 11032836

DOI: 10.1074/jbc.m007663200

PubMed ID: 17966070

Title: Association between delta-aminolevulinic acid dehydratase (ALAD) polymorphism and blood lead levels: a meta-regression analysis.

PubMed ID: 17966070

DOI: 10.1080/15287390701550946

PubMed ID: 19812033

Title: Allosteric inhibition of human porphobilinogen synthase.

PubMed ID: 19812033

DOI: 10.1074/jbc.m109.026294

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 12897770

Title: Control of tetrapyrrole biosynthesis by alternate quaternary forms of porphobilinogen synthase.

PubMed ID: 12897770

DOI: 10.1038/nsb963

PubMed ID: 1716854

Title: Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning.

PubMed ID: 1716854

PubMed ID: 2063868

Title: Delta-aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.

PubMed ID: 2063868

PubMed ID: 1309003

Title: Cloning and expression of the defective genes in delta-aminolevulinate dehydratase porphyria: compound heterozygosity in this hereditary liver disease.

PubMed ID: 1309003

PubMed ID: 10519994

Title: A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity.

PubMed ID: 10519994

DOI: 10.1046/j.1365-2141.1999.01647.x

PubMed ID: 10706561

Title: Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.

PubMed ID: 10706561

DOI: 10.1002/hep.510310321

PubMed ID: 16398658

Title: Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

PubMed ID: 16398658

DOI: 10.1111/j.1365-2141.2005.05852.x

PubMed ID: 17236137

Title: ALAD porphyria is a conformational disease.

PubMed ID: 17236137

DOI: 10.1086/511444

Sequence Information:

Length: 330
Mass: 36295
Checksum: E005F3055F6D9403
Sequence:

MQPQSVLHSG YFHPLLRAWQ TATTTLNASN LIYPIFVTDV PDDIQPITSL PGVARYGVKR 
LEEMLRPLVE EGLRCVLIFG VPSRVPKDER GSAADSEESP AIEAIHLLRK TFPNLLVACD 
VCLCPYTSHG HCGLLSENGA FRAEESRQRL AEVALAYAKA GCQVVAPSDM MDGRVEAIKE 
ALMAHGLGNR VSVMSYSAKF ASCFYGPFRD AAKSSPAFGD RRCYQLPPGA RGLALRAVDR 
DVREGADMLM VKPGMPYLDI VREVKDKHPD LPLAVYHVSG EFAMLWHGAQ AGAFDLKAAV 
LEAMTAFRRA GADIIITYYT PQLLQWLKEE

Genular Protein ID: 523822687

Symbol: B7Z3I9_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z3I9

Database IDs:

Sequence Information:

Length: 313
Mass: 34520
Checksum: EA8A783C37E9C899
Sequence:

MQPQSVLHSG YFHPLLRAWQ TATTTLNASN LIYPIFVTYG VKRLEEMLRP LVEEGLRCVL 
IFGVPSRVPK DERGSAADSE ESPAIEAIHL LRKTFPNLLV ACDVCLCPYT SHGHCGLLSE 
NGAFRAEESR QRLAEVALAY AKAGCQVVAP SDMMDGRVEA IKEALMAHGL GNRVSVMSYS 
AKFASCFYGP FRDAAKSSPA FGDRRCYQLP PGARGLALRA VDRDVREGAD MLMVKPGMPY 
LDIVREVKDK HPDLPLAVYH VSGEFAMLWH GAQAGAFDLK AAVLEAMTAF RRAGADIIIT 
YYTPQLLQWL KEE

Genular Protein ID: 53946838

Symbol: Q6ZMU0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6ZMU0

Database IDs:

Sequence Information:

Length: 359
Mass: 39050
Checksum: 4AD5E8C53B11BAED
Sequence:

MPPTSSTPSL SRPGLGQAGK PDTGSHPPPT ISTSIFLSCF PTIPLSRPRT TGPSHSYQSI 
SHPRSCRDVP DDIQPITSLP GVARYGVKRL EEMLRPLVEE GLRCVLIFGV PSRVPKDERG 
SAADSEESPA IEAIHLLRKT FPNLLVACDV CLCPYTSHGH CGLLSENGAF RAEESRQRLA 
EVALAYAKAG CQVVAPSDMM DGRVEAIKEA LMAHGLGNRV SVMSYSAKFA SCFYGPFRDA 
AKSSPAFGDR RCYQLPPGAR GLALRAVDRD VREGADMLMV KPGMLYLDIV REVKDKHPDL 
PLAVYHVSGE FAMLWHGAQA GAFDLKAAVL EAMTAFRRAG ADIIITYYTP QLLQWLKEE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: ALAD

Associated with

Cells (max top 100)

Other Information

Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone. PubMed ID: 3463993

RsaI polymorphism in the human delta-aminolevulinate dehydratase gene at 9q34. PubMed ID: 1678509

Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria. PubMed ID: 1569184

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

DNA sequence and analysis of human chromosome 9. PubMed ID: 15164053

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. PubMed ID: 12665801

Identification of lysine at the active site of human 5-aminolevulinate dehydratase. PubMed ID: 3092810

The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes. PubMed ID: 1769358

The molecular mechanism of lead inhibition of human porphobilinogen synthase. PubMed ID: 11032836

Association between delta-aminolevulinic acid dehydratase (ALAD) polymorphism and blood lead levels: a meta-regression analysis. PubMed ID: 17966070

Allosteric inhibition of human porphobilinogen synthase. PubMed ID: 19812033

Initial characterization of the human central proteome. PubMed ID: 21269460

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Control of tetrapyrrole biosynthesis by alternate quaternary forms of porphobilinogen synthase. PubMed ID: 12897770

Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning. PubMed ID: 1716854

Delta-aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. PubMed ID: 2063868

Cloning and expression of the defective genes in delta-aminolevulinate dehydratase porphyria: compound heterozygosity in this hereditary liver disease. PubMed ID: 1309003

A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity. PubMed ID: 10519994

Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. PubMed ID: 10706561

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. PubMed ID: 16398658

ALAD porphyria is a conformational disease. PubMed ID: 17236137

Database document:

PubMed ID: 3463993

PubMed ID: 1678509

PubMed ID: 1569184

PubMed ID: 14702039

PubMed ID: 15164053

PubMed ID: 15489334

PubMed ID: 12665801

PubMed ID: 3092810

PubMed ID: 1769358

PubMed ID: 11032836

PubMed ID: 17966070

PubMed ID: 19812033

PubMed ID: 21269460

PubMed ID: 24275569

PubMed ID: 12897770

PubMed ID: 1716854

PubMed ID: 2063868

PubMed ID: 1309003

PubMed ID: 10519994

PubMed ID: 10706561

PubMed ID: 16398658

PubMed ID: 17236137