ALPL alkaline phosphatase, biomineralization associated
Gene ID: 249, updated on 14-Nov-2024Gene type: protein coding
Also known as: HOPS; HPPA; HPPC; HPPI; HPPO; TNAP; TNALP; APTNAP; TNSALP; AP-TNAP; TNS-ALP
- See all available tests in GTR for this gene
- Go to complete Gene record for ALPL
- Go to Variation Viewer for ALPL variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Adult hypophosphatasia | See labs |
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Childhood hypophosphatasia | See labs |
| Common genetic variants associate with serum phosphorus concentration. GeneReviews: Not available | |
| Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial. GeneReviews: Not available | |
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available | |
| Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. GeneReviews: Not available | |
| Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. GeneReviews: Not available | |
| Human metabolic individuality in biomedical and pharmaceutical research. GeneReviews: Not available | |
| Hypophosphatasia MedGen: C0020630GeneReviews: Hypophosphatasia | See labs |
| Infantile hypophosphatasia | See labs |
| Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFα inhibitors in patients with rheumatoid arthritis. GeneReviews: Not available | |
| Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. GeneReviews: Not available |
Genomic context
- Location:
- 1p36.12
- Sequence:
- Chromosome: 1; NC_000001.11 (21508984..21578410)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALPL variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALPL database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database
- Variation ViewerRelated Variants
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