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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, Infantile and Hypophosphatasia, Childhood. Among its related pathways are Thiamine metabolism and Endochondral Ossification. 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 CIViC summary , 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
GH01G021550 0.9 FANTOM5 dbSUPER 25.8 +41.4 41358 0.3 ZNF664 PKNOX1 ESRRA PBX2 HLF CEBPB ZBTB33 REST ALPL ECE1 EIF4G3 GC01P021552 GC01P021551 GC01P021510 GC01P021509
GH01G021541 0.9 ENCODE dbSUPER 22.4 +33.1 33060 1.4 SOX13 CTCF SP5 GFI1B NR2F1 ZMYM3 NR2F2 ZNF121 HDAC2 NR2C1 ALPL RAP1GAP ECE1 GC01P021551 GC01P021552 GC01P021509 GC01P021510
GH01G021539 0.9 ENCODE 21.2 +31.0 31041 0.2 HDGF HDAC1 ZNF48 RAD21 TCF12 GATA2 RELB CBFB NCOA1 ZNF592 ALPL LOC105376834 RAP1GAP NBPF3 GC01P021552 GC01P021551 GC01P021510 GC01P021509
GH01G021537 1.1 Ensembl ENCODE 17 +29.2 29167 1.6 TFAP4 SAP130 MLX MAX ZIC2 THRB ZNF48 RAD21 RARA ZKSCAN1 ALPL LOC105376834 RAP1GAP GC01P021552 GC01P021551 GC01P021510 GC01P021509
GH01G021658 1.6 Ensembl ENCODE dbSUPER 11.5 +150.5 150515 1.0 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 ZNF207 ALPL RAP1GAP PIR35545
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000002758 318 201 BCOR CTCF ATF1 RB1 AGO1 ZNF48 RAD21 POLR2A PATZ1 ZNF143

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

Selected DME Specific Peptides for ALPL Gene

P05186:
  • DRDWYSDNEMP
  • DEKARGTRLDGL
  • VTADHSHVF
  • GGGRKYM
  • LQKLNTNV
  • ETHGGEDVA
  • TATAYLCGVK
  • AHLLHGV
  • EVTSILRWAKD
  • HEAVEMD
  • GDGMGVSTVTA
  • VEGGRID
  • DTLTVVTADHSH
  • TDPSLSEMV
  • MAYAACIG
  • VPEKEKDP
  • FLGDGMGV
  • GLFEPGD
  • NAQVPDS
  • LEMDKFP
  • LYGNGPGY

Post-translational modifications for ALPL Gene

  • N-glycosylated.
  • Glycosylation at Asn140, posLast=230230, Asn271, posLast=303303, and Asn430
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ALPL (Alkaline Phosphatase/ALPL)
  • Cell Signaling Technology (CST) Antibodies for ALPL (ALPL)

Protein Products

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:0003824 catalytic activity IEA --
GO:0004035 alkaline phosphatase activity IEA --
GO:0005515 protein binding IPI 15208311
GO:0016462 pyrophosphatase activity IDA 19874193
GO:0016787 hydrolase activity 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

miRNA for ALPL Gene

miRTarBase miRNAs that target ALPL

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALPL gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 3
peroxisome 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ALPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,IDA 16210410
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

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:0006501 C-terminal protein lipidation TAS --
genes like me logo Genes that share ontologies with ALPL: view

Drugs & Compounds for ALPL Gene

(23) 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

(14) 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
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl propanol
  • 2-Methyl-1-propanol
  • 2-Methyl-1-propanyl alcohol
  • 2-Methylpropan-1-ol
78-83-1

(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

Drug Products

Transcripts for ALPL Gene

Unigene Clusters for ALPL Gene

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

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for ALPL Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Kidney(3.3)
  • Bone(2.5)
  • Intestine(2.5)
  • Blood(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALPL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • rectum
  • ureter
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
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
chimpanzee
(Pan troglodytes)
Mammalia ALPL 34 35
  • 94.37 (n)
dog
(Canis familiaris)
Mammalia ALP 35
  • 90 (a)
OneToOne
ALPL 34
  • 89.55 (n)
cow
(Bos Taurus)
Mammalia ALPL 34 35
  • 89.47 (n)
rat
(Rattus norvegicus)
Mammalia Alpl 34
  • 86.2 (n)
mouse
(Mus musculus)
Mammalia Alpl 34 16 35
  • 85.15 (n)
oppossum
(Monodelphis domestica)
Mammalia ALPL 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALPL 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALPL 34 35
  • 73.93 (n)
lizard
(Anolis carolinensis)
Reptilia ALPL 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485467 34
  • 71.31 (n)
zebrafish
(Danio rerio)
Actinopterygii alpl 35
  • 68 (a)
OneToOne
alp3 34
  • 60.04 (n)
zgc56672 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001684 34
  • 54.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8147 34 35
  • 53.42 (n)
CG1809 36 35
  • 44 (a)
CG5656 36 35
  • 44 (a)
CG10592 36 35
  • 43 (a)
CG10827 36 35
  • 43 (a)
Aph-4 36 35
  • 42 (a)
CG16771 36 35
  • 42 (a)
CG5150 36 35
  • 42 (a)
CG3264 36 35
  • 41 (a)
CG3290 36 35
  • 41 (a)
CG3292 36 35
  • 40 (a)
CG8105 36 35
  • 38 (a)
CG5361 35
  • 21 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO8 35
  • 21 (a)
OneToMany
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
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1365 34
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
rs121918000 other, Hypophosphatasia (HOPS) [MIM:146300] 21,564,103(+) CCTAC(A/G)CCCAC reference, missense
rs121918001 Pathogenic, Hypophosphatasia (HOPS) [MIM:146300], Hypophosphatasia childhood type (HOPSC) [MIM:241510] 21,561,126(+) CTGCC(A/C/T)GCATC intron-variant, reference, missense
rs121918002 Pathogenic, Hypophosphatasia (HOPS) [MIM:146300] 21,573,683(+) AGGGG(A/C)CATGC reference, missense
rs121918003 Pathogenic, Hypophosphatasia (HOPS) [MIM:146300] 21,561,127(+) TGCCC(A/C/G)CATCC intron-variant, reference, missense
rs121918004 Pathogenic, Hypophosphatasia (HOPS) [MIM:146300] 21,564,188(+) CTACC(A/C)GCTCA reference, missense

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

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

Disorder Aliases PubMed IDs
hypophosphatasia, infantile
  • infantile hypophosphatasia
hypophosphatasia, childhood
  • childhood hypophosphatasia
hypophosphatasia, adult
  • odontohypophosphatasia
hypophosphatasia
  • hypophosphatasia, childhood
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:11479741, 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
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 64
  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 64
  3. 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 64
  4. 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 64
  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 64

Products for ALPL Gene

Sources for ALPL Gene

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