ALPL Chromosome 1
Alkaline phosphatase, biomineralization associated
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What This Gene Does
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]
Gene Info
Gene Group
Alkaline phosphatases
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000162551
Associated Conditions (24)
Hypophosphatasia
Infantile hypophosphatasia
ALPL-related disorder
Decreased circulating alkaline phosphatase activity
Adult hypophosphatasia
Childhood hypophosphatasia
Multiple epiphyseal dysplasia
Odontohypophosphatasia
Inborn genetic diseases
Osteogenesis imperfecta
Autosomal recessive ALPL-related disorders
Hypophosphataemia or rickets
Hepatocellular carcinoma
See cases
ALPL-related autosomal recessive hypophosphatasia
Alpha thalassemia-X-linked intellectual disability syndrome
Microcephaly
Melanoma
Ovarian serous cystadenocarcinoma
Perinatal lethal hypophosphatasia
+4 more conditions
Key Variants
RS1002385454
Conflicting classifications of pathogenicity
Hypophosphatasia, Infantile hypophosphatasia, Hypophosphatasia
Health Risk
RS1015578994
Conflicting classifications of pathogenicity
Hypophosphatasia, ALPL-related disorder, Hypophosphatasia
Health Risk
RS1057524727
Conflicting classifications of pathogenicity
Hypophosphatasia, Hypophosphatasia
Health Risk
RS1114167438
Conflicting classifications of pathogenicity
Decreased circulating alkaline phosphatase activity, Hypophosphatasia, Adult hypophosphatasia
Health Risk
RS1131691372
Conflicting classifications of pathogenicity
Health Risk
RS11586344
Conflicting classifications of pathogenicity
Hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia
Health Risk
RS1205971311
Conflicting classifications of pathogenicity
Hypophosphatasia, Infantile hypophosphatasia, Adult hypophosphatasia
Health Risk
RS1208855163
Conflicting classifications of pathogenicity
Adult hypophosphatasia, Hypophosphatasia, Childhood hypophosphatasia
Health Risk
RS121918006
Conflicting classifications of pathogenicity
Infantile hypophosphatasia, Hypophosphatasia, Infantile hypophosphatasia
Health Risk
RS121918017
Conflicting classifications of pathogenicity
Infantile hypophosphatasia, Hypophosphatasia, Adult hypophosphatasia
Health Risk
RS121918018
Conflicting classifications of pathogenicity
Childhood hypophosphatasia, Odontohypophosphatasia, Infantile hypophosphatasia
Health Risk
RS1220125702
Conflicting classifications of pathogenicity
Inborn genetic diseases, Adult hypophosphatasia, Hypophosphatasia
Health Risk
All Variants (420)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760029254 | Health Risk | Pathogenic/Likely pathogenic | Hypophosphatasia, Adult hypophosphatasia, Hypophosphatasia |
| RS761836226 | Health Risk | Pathogenic/Likely pathogenic | Adult hypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia |
| RS763457259 | Health Risk | Pathogenic/Likely pathogenic | Infantile hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia |
| RS765011829 | Health Risk | Pathogenic/Likely pathogenic | Infantile hypophosphatasia, Adult hypophosphatasia, ALPL-related disorder |
| RS765458125 | Health Risk | Pathogenic/Likely pathogenic | Adult hypophosphatasia, Hypophosphatasia, Childhood hypophosphatasia |
| RS766656419 | Health Risk | Pathogenic/Likely pathogenic | Decreased circulating alkaline phosphatase activity, Hypophosphatasia, Adult hypophosphatasia |
| RS768976020 | Health Risk | Pathogenic/Likely pathogenic | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia |
| RS770093969 | Health Risk | Pathogenic/Likely pathogenic | Adult hypophosphatasia, Hypophosphatasia, ALPL-related disorder |
| RS770548228 | Health Risk | Pathogenic/Likely pathogenic | Adult hypophosphatasia, Hypophosphatasia, Childhood hypophosphatasia |
| RS772432010 | Health Risk | Pathogenic/Likely pathogenic | Hypophosphatasia, Adult hypophosphatasia, Hypophosphatasia |
| RS772638759 | Health Risk | Pathogenic/Likely pathogenic | Infantile hypophosphatasia, Hypophosphatasia, Infantile hypophosphatasia |
| RS772682471 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Hypophosphatasia, Adult hypophosphatasia |
| RS773257111 | Health Risk | Pathogenic/Likely pathogenic | Adult hypophosphatasia, Hypophosphatasia, Adult hypophosphatasia |
| RS776117933 | Health Risk | Pathogenic/Likely pathogenic | Hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia |
| RS779832611 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Adult hypophosphatasia, Hypophosphatasia |
| RS781264043 | Health Risk | Pathogenic/Likely pathogenic | Infantile hypophosphatasia, Adult hypophosphatasia, ALPL-related disorder |
| RS781272386 | Health Risk | Pathogenic/Likely pathogenic | Hypophosphatasia, Infantile hypophosphatasia, Osteogenesis imperfecta |
| RS786204442 | Health Risk | Pathogenic/Likely pathogenic | Infantile hypophosphatasia, Hypophosphatasia, Adult hypophosphatasia |
| RS786204530 | Health Risk | Pathogenic/Likely pathogenic | Infantile hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia |
| RS966212736 | Health Risk | Pathogenic/Likely pathogenic | Hypophosphatasia, Adult hypophosphatasia, Infantile hypophosphatasia |