Version 2.78

Description

The FGF23 gene (fibroblast growth factor 23) [HGNC Gene ID:3680] is located on chromosome 12p13.3. This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013] [NCBI Gene ID:8074] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
FGF23 gene
Part Display Name
FGF23 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-03-29
Construct for LOINC Short Name
FGF23 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35570-8
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35570-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) FGF23 基因
Synonyms: ADHR;FGF-23;HPDR2;HYPF;低磷酸盐血症 家族性抗维生素 D 佝偻病-2 (常染色体显性);低磷酸盐血症 抗维生素 D 佝偻病-2 (常染色体显性);低磷酸盐血症 维生素 D-抗性佝偻病-2 (常染色体显性);低磷酸盐血症 维生素 D-抗性软骨病-2 (常染色体显性);成纤维细胞生长因子 23;肿瘤源性低磷酸盐血症诱导因子
et-EE Estonian (Estonia) FGF23 geen
es-ES Spanish (Spain) Gen FGF23
it-IT Italian (Italy) FGF23, gene
Synonyms: Gene FGF23
tr-TR Turkish (Turkey) FGF23 geni
ru-RU Russian (Russian Federation) FGF23 ген
nl-NL Dutch (Netherlands) FGF23-gen
Synonyms: FGF23 gen