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Aliases for ALPL Gene

Aliases for ALPL Gene

  • Alkaline Phosphatase, Liver/Bone/Kidney 2 3 5
  • Alkaline Phosphatase Liver/Bone/Kidney Isozyme 3 4
  • EC 3.1.3.1 4 61
  • AP-TNAP 3 4
  • TNSALP 3 4
  • Alkaline Phosphatase, Tissue-Nonspecific Isozyme 3
  • Liver/Bone/Kidney-Type Alkaline Phosphatase 3
  • Tissue-Nonspecific ALP 3
  • APTNAP 3
  • TNAP 3
  • HOPS 3

External Ids for ALPL Gene

Previous HGNC Symbols for ALPL Gene

  • HOPS

Previous GeneCards Identifiers for ALPL Gene

  • GC01P021405
  • GC01P020871
  • GC01P020981
  • GC01P021305
  • GC01P021581
  • GC01P021708
  • GC01P021835
  • GC01P020079

Summaries for ALPL Gene

Entrez Gene Summary for ALPL Gene

  • This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]

GeneCards Summary for ALPL Gene

ALPL (Alkaline Phosphatase, Liver/Bone/Kidney) is a Protein Coding gene. Diseases associated with ALPL include Hypophosphatasia, Childhood and Hypophosphatasia, Infantile. Among its related pathways are Folate biosynthesis and TNF-alpha/NF-kB Signaling Pathway. GO annotations related to this gene include phosphatase activity and alkaline phosphatase activity. An important paralog of this gene is ALPI.

UniProtKB/Swiss-Prot for ALPL Gene

  • This isozyme may play a role in skeletal mineralization.

Gene Wiki entry for ALPL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALPL Gene

Genomics for ALPL Gene

Regulatory Elements for ALPL Gene

Enhancers for ALPL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ALPL on UCSC Golden Path with GeneCards custom track

Promoters for ALPL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ALPL on UCSC Golden Path with GeneCards custom track

Genomic Location for ALPL Gene

Chromosome:
1
Start:
21,508,982 bp from pter
End:
21,578,412 bp from pter
Size:
69,431 bases
Orientation:
Plus strand

Genomic View for ALPL Gene

Genes around ALPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALPL Gene

Proteins for ALPL Gene

  • Protein details for ALPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05186-PPBT_HUMAN
    Recommended name:
    Alkaline phosphatase, tissue-nonspecific isozyme
    Protein Accession:
    P05186
    Secondary Accessions:
    • A1A4E7
    • B2RMP8
    • B7Z387
    • B7Z4Y6
    • O75090
    • Q2TAI7
    • Q59EJ7
    • Q5BKZ5
    • Q5VTG5
    • Q6NZI8
    • Q8WU32
    • Q9UBK0

    Protein attributes for ALPL Gene

    Size:
    524 amino acids
    Molecular mass:
    57305 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAD93051.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALPL Gene

Post-translational modifications for ALPL Gene

Other Protein References for ALPL Gene

Domains & Families for ALPL Gene

Gene Families for ALPL Gene

Suggested Antigen Peptide Sequences for ALPL Gene

Graphical View of Domain Structure for InterPro Entry

P05186

UniProtKB/Swiss-Prot:

PPBT_HUMAN :
  • Belongs to the alkaline phosphatase family.
Family:
  • Belongs to the alkaline phosphatase family.
genes like me logo Genes that share domains with ALPL: view

Function for ALPL Gene

Molecular function for ALPL Gene

GENATLAS Biochemistry:
phosphatase alkaline,liver/bone/kidney,non specific
UniProtKB/Swiss-Prot CatalyticActivity:
A phosphate monoester + H(2)O = an alcohol + phosphate.
UniProtKB/Swiss-Prot Function:
This isozyme may play a role in skeletal mineralization.

Enzyme Numbers (IUBMB) for ALPL Gene

Gene Ontology (GO) - Molecular Function for ALPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004035 alkaline phosphatase activity IEA --
GO:0005515 protein binding IPI 15208311
GO:0016462 pyrophosphatase activity IDA 19874193
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ALPL: view
genes like me logo Genes that share phenotypes with ALPL: view

Human Phenotype Ontology for ALPL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALPL Gene

MGI Knock Outs for ALPL:

Animal Model Products

CRISPR Products

miRNA for ALPL Gene

miRTarBase miRNAs that target ALPL

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ALPL Gene

Localization for ALPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALPL Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALPL Gene COMPARTMENTS Subcellular localization image for ALPL gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 4
cytoskeleton 3
lysosome 3
nucleus 3
peroxisome 3
vacuole 3
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for ALPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IDA 16210410
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALPL: view

Pathways & Interactions for ALPL Gene

genes like me logo Genes that share pathways with ALPL: view

Pathways by source for ALPL Gene

1 Cell Signaling Technology pathway for ALPL Gene
2 KEGG pathways for ALPL Gene
1 GeneGo (Thomson Reuters) pathway for ALPL Gene

SIGNOR curated interactions for ALPL Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ALPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9781036
GO:0001649 osteoblast differentiation IDA 16210410
GO:0001958 endochondral ossification IEA --
GO:0003006 developmental process involved in reproduction IEA --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with ALPL: view

Drugs & Compounds for ALPL Gene

(22) Drugs for ALPL Gene - From: DrugBank, ApexBio, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amifostine Approved, Investigational Pharma Enzyme 81
Fospropofol Approved, Illicit Pharma Enzyme, substrate 21
Sodium monofluorophosphate Approved Pharma Pyruvate/alkaline phosphatase inhibitor 0
Ethyol Approved December 8, 1995 Pharma 0
Isopropyl alcohol Approved Pharma 0

(15) Additional Compounds for ALPL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Butanol
  • 1-Butanol
  • 1-Butyl alcohol
  • Butanol
  • Butyl alcohol
  • Butyl hydroxide
71-36-3
1-Hexanol
  • 1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Alcohol C-6
  • Alcohol(C6)
111-27-3
1-Pentanol
  • 1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Alcool amylique (french)
71-41-0
dihydroneopterin triphosphate
  • 2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate
  • 6-(L-Erythro-1,2-Dihydroxypropyl 3-triphosphate)-7,8-dihydropterin
  • 6-[(1S,2R)-1,2-Dihydroxy-3-triphosphooxypropyl]-7,8-dihydropterin
  • 7,8-Dihydroneopterin 3'-triphosphate
  • 7,8-Dihydroneopterin triphosphate
20574-65-6
Dihydroxyacetone phosphate
  • 1,3-Dihydroxy-2-Propanone mono(dihydrogen phosphate)
  • 1,3-Dihydroxy-2-propanone phosphate
  • 1,3-Dihydroxyacetone 1-phosphate
  • 1-Hydroxy-3-(phosphonooxy)-2-Propanone
  • 1-Hydroxy-3-(phosphonooxy)acetone
57-04-5

(2) ApexBio Compounds for ALPL Gene

Compound Action Cas Number
(-)-p-Bromotetramisole Oxalate 62284-79-1
Sodium Monofluorophosphate Pyruvate/alkaline phosphatase inhibitor 10163-15-2
genes like me logo Genes that share compounds with ALPL: view

Transcripts for ALPL Gene

Unigene Clusters for ALPL Gene

Alkaline phosphatase, liver/bone/kidney:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALPL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c
SP1: - - - -
SP2: - - -
SP3:
SP4: -
SP5:

Relevant External Links for ALPL Gene

GeneLoc Exon Structure for
ALPL
ECgene alternative splicing isoforms for
ALPL

Expression for ALPL Gene

mRNA expression in normal human tissues for ALPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALPL Gene

This gene is overexpressed in Whole Blood (x36.4).

Protein differential expression in normal tissues from HIPED for ALPL Gene

This gene is overexpressed in Nasal epithelium (28.9), Cerebral cortex (8.7), and Adrenal (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ALPL Gene



NURSA nuclear receptor signaling pathways regulating expression of ALPL Gene:

ALPL

SOURCE GeneReport for Unigene cluster for ALPL Gene:

Hs.75431
genes like me logo Genes that share expression patterns with ALPL: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ALPL Gene

Orthologs for ALPL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALPL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ALPL 34
  • 89.47 (n)
  • 91.35 (a)
ALPL 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALPL 34
  • 89.55 (n)
  • 90.57 (a)
ALP 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alpl 34
  • 85.15 (n)
  • 91.49 (a)
Alpl 16
Alpl 35
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALPL 34
  • 94.37 (n)
  • 92.71 (a)
ALPL 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alpl 34
  • 86.2 (n)
  • 91.68 (a)
oppossum
(Monodelphis domestica)
Mammalia ALPL 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALPL 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALPL 34
  • 73.93 (n)
  • 76.6 (a)
ALPL 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALPL 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485467 34
  • 71.31 (n)
  • 73.97 (a)
zebrafish
(Danio rerio)
Actinopterygii alp3 34
  • 60.04 (n)
  • 60.89 (a)
zgc56672 34
alpl 35
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Aph-4 36
  • 42 (a)
CG10592 36
  • 43 (a)
CG10827 36
  • 43 (a)
CG16771 36
  • 42 (a)
CG1809 36
  • 44 (a)
CG3264 36
  • 41 (a)
CG3290 36
  • 41 (a)
CG3292 36
  • 40 (a)
CG5150 36
  • 42 (a)
CG5656 36
  • 44 (a)
CG8105 36
  • 38 (a)
CG8147 34
  • 53.42 (n)
  • 46.29 (a)
Aph-4 35
  • 32 (a)
ManyToMany
CG10592 35
  • 36 (a)
ManyToMany
CG10827 35
  • 36 (a)
ManyToMany
CG16771 35
  • 30 (a)
ManyToMany
CG1809 35
  • 37 (a)
ManyToMany
CG3264 35
  • 35 (a)
ManyToMany
CG3290 35
  • 34 (a)
ManyToMany
CG3292 35
  • 31 (a)
ManyToMany
CG5150 35
  • 35 (a)
ManyToMany
CG5361 35
  • 21 (a)
ManyToMany
CG5656 35
  • 35 (a)
ManyToMany
CG8105 35
  • 35 (a)
ManyToMany
CG8147 35
  • 34 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001684 34
  • 54.2 (n)
  • 46.79 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO8 35
  • 21 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1365 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
ManyToMany
-- 35
  • 41 (a)
ManyToMany
-- 35
  • 40 (a)
ManyToMany
CSA.180 35
  • 39 (a)
ManyToMany
CSA.4362 35
  • 38 (a)
ManyToMany
Species where no ortholog for ALPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALPL Gene

ENSEMBL:
Gene Tree for ALPL (if available)
TreeFam:
Gene Tree for ALPL (if available)

Paralogs for ALPL Gene

Paralogs for ALPL Gene

(3) SIMAP similar genes for ALPL Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ALPL: view

Variants for ALPL Gene

Sequence variations from dbSNP and Humsavar for ALPL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_006147 Hypophosphatasia (HOPS)
VAR_006148 Hypophosphatasia (HOPS)
VAR_006149 Hypophosphatasia (HOPS)
VAR_006150 Hypophosphatasia (HOPS)
VAR_006151 Hypophosphatasia (HOPS)

Structural Variations from Database of Genomic Variants (DGV) for ALPL Gene

Variant ID Type Subtype PubMed ID
dgv24e212 CNV loss 25503493
esv1457635 CNV insertion 17803354
esv2672081 CNV deletion 23128226
esv2745075 CNV deletion 23290073
esv2758926 CNV gain+loss 17122850
esv34155 CNV loss 18971310
esv3585450 CNV loss 21293372
nsv428432 CNV gain 18775914
nsv460740 CNV loss 19166990
nsv477018 CNV novel sequence insertion 20440878
nsv508359 CNV deletion 20534489
nsv509002 CNV insertion 20534489
nsv517096 CNV loss 19592680
nsv545736 CNV loss 21841781
nsv834391 CNV loss 17160897
nsv998678 CNV gain 25217958

Variation tolerance for ALPL Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.82; 83.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALPL Gene

Human Gene Mutation Database (HGMD)
ALPL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALPL Gene

Disorders for ALPL Gene

MalaCards: The human disease database

(24) MalaCards diseases for ALPL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypophosphatasia, childhood
  • childhood-onset hypophosphatasia
hypophosphatasia, infantile
  • perinatal lethal hypophosphatasia
hypophosphatasia, adult
  • odontohypophosphatasia
hypophosphatasia
  • childhood hypophosphatasia
prenatal benign hypophosphatasia
  • prenatal benign rathburn disease
- elite association - COSMIC cancer census association via MalaCards
Search ALPL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPBT_HUMAN
  • Hypophosphatasia (HOPS) [MIM:146300]: A metabolic bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Four forms are distinguished, depending on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is almost always fatal. The adult form is mild and characterized by recurrent fractures, osteomalacia, rickets, and loss of teeth. Some cases are asymptomatic, while some patients manifest dental features without skeletal manifestations (odontohypophosphatasia). {ECO:0000269 PubMed:10094560, ECO:0000269 PubMed:10332035, ECO:0000269 PubMed:10679946, ECO:0000269 PubMed:10690885, ECO:0000269 PubMed:10834525, ECO:0000269 PubMed:11438998, ECO:0000269 PubMed:11745997, ECO:0000269 PubMed:11760847, ECO:0000269 PubMed:11834095, ECO:0000269 PubMed:11855933, ECO:0000269 PubMed:11999978, ECO:0000269 PubMed:12815606, ECO:0000269 PubMed:12920074, ECO:0000269 PubMed:1409720, ECO:0000269 PubMed:15135428, ECO:0000269 PubMed:15694177, ECO:0000269 PubMed:19500388, ECO:0000269 PubMed:22266140, ECO:0000269 PubMed:23039266, ECO:0000269 PubMed:23688511, ECO:0000269 PubMed:25982064, ECO:0000269 PubMed:3174660, ECO:0000269 PubMed:7833929, ECO:0000269 PubMed:8406453, ECO:0000269 PubMed:8954059, ECO:0000269 PubMed:9452105, ECO:0000269 PubMed:9747027, ECO:0000269 PubMed:9781036}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypophosphatasia childhood type (HOPSC) [MIM:241510]: A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. {ECO:0000269 PubMed:11760847}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypophosphatasia infantile type (HOPSI) [MIM:241500]: A severe bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe rachitic skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies. {ECO:0000269 PubMed:10834525, ECO:0000269 PubMed:11438998, ECO:0000269 PubMed:7833929, ECO:0000269 PubMed:8954059}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALPL

Genetic Association Database (GAD)
ALPL
Human Genome Epidemiology (HuGE) Navigator
ALPL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALPL
genes like me logo Genes that share disorders with ALPL: view

No data available for Genatlas for ALPL Gene

Publications for ALPL Gene

  1. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. (PMID: 10834525) Mochizuki H. … Ozono K. (Eur. J. Pediatr. 2000) 3 4 22 46 65
  2. Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population. (PMID: 19931660) Ermakov S. … NA1rnberg P. (Bone 2010) 3 22 46 65
  3. Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. (PMID: 19303062) Tanaka T. … Ferrucci L. (Am. J. Hum. Genet. 2009) 3 22 46 65
  4. Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. (PMID: 19500388) Fauvert D. … Mornet E. (BMC Med. Genet. 2009) 3 4 46 65
  5. Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. (PMID: 17043047) Zhang Y. … Wordsworth B.P. (Rheumatology (Oxford) 2007) 3 22 46 65

Products for ALPL Gene

Sources for ALPL Gene

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