Identity
HGNC
LOCATION
1p36.12
LOCUSID
ALIAS
AP-TNAP,APTNAP,HOPS,HPPA,HPPC,HPPI,HPPO,TNALP,TNAP,TNSALP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 249
MIM: 171760
HGNC: 438
Ensembl: ENSG00000162551
Variants:
dbSNP: 249
ClinVar: 249
TCGA: ENSG00000162551
COSMIC: ALPL
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36444396 | 2023 | Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. | 1 |
| 36792831 | 2023 | Early elevated alkaline phosphatase as a surrogate biomarker of ongoing metabolic bone disease of prematurity. | 3 |
| 37192015 | 2023 | Promotion effect of FGF23 on osteopenia in congenital scoliosis through FGFr3/TNAP/OPN pathway. | 2 |
| 37277451 | 2023 | Association between changes in serum alkaline phosphatase levels and radiographic progression in ankylosing spondylitis. | 0 |
| 37351650 | 2023 | Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant. | 2 |
| 38234425 | 2023 | Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene. | 0 |
| 36444396 | 2023 | Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. | 1 |
| 36792831 | 2023 | Early elevated alkaline phosphatase as a surrogate biomarker of ongoing metabolic bone disease of prematurity. | 3 |
| 37192015 | 2023 | Promotion effect of FGF23 on osteopenia in congenital scoliosis through FGFr3/TNAP/OPN pathway. | 2 |
| 37277451 | 2023 | Association between changes in serum alkaline phosphatase levels and radiographic progression in ankylosing spondylitis. | 0 |
| 37351650 | 2023 | Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant. | 2 |
| 38234425 | 2023 | Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene. | 0 |
| 34213743 | 2022 | Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia. | 3 |
| 34448000 | 2022 | Expression of the Adipocyte Progenitor Markers MSCA1 and CD36 is Associated With Adipose Tissue Function in Children. | 5 |
| 34935951 | 2022 | ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia. | 2 |
Citation
Dessen P
ALPL (alkaline phosphatase, biomineralization associated)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/623/alpl
