LP188489-1
ALPL gene
Active
Description
The ALPL gene (alkaline phosphatase, liver/bone/kidney) [HGNC Gene ID:438] is located on chromosome 1p36.12. 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. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] [NCBI Gene ID:249] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- ALPL gene
- Part Display Name
- ALPL gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-01-05
- Construct for LOINC Short Name
- ALPL
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP188489-1
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ALPL 基因 Synonyms: 肝/骨/肾型碱性磷酸酯酶; |
| it-IT | Italian (Italy) | ALPL, gene Synonyms: Gene ALPL |
| tr-TR | Turkish (Turkey) | ALPL geni |
| es-ES | Spanish (Spain) | Gen ALPL |
| nl-NL | Dutch (Netherlands) | ALPL-gen Synonyms: ALPL gen |
| el-GR | Greek (Greece) | Γονίδιο ALPL Synonyms: Γονίδιο ALPL |
LOINC Copyright
Copyright © 2025 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://