Fibroblast Growth Factor 23

Alternative Names

  • FGF23
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OMIM Number

605380

NCBI Gene ID

8074

Uniprot ID

Q9GZV9

Length

11,502 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Fibroblast Growth Factor 23

Molecular Mass

27954 Da

Amino Acid Count

251

Genomic Location

chr12:4,368,227-4,379,728

Gene Map Locus
12p13.32

Description

The FGF23 gene encodes a protein required for several key functions in the cell. It is responsible for regulating renal tubular phosphate transport as well as maintaining the homeostasis of phosphate ions in the body. The protein acts as a growth factor and regulates the processes of bone mineralization and osteoblast differentiation.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020638.3:c.367G>TLebanonchr12:4370732PathogenicPathogenicTumoral Calcinosis, Hyperphosphatemic, Familial, 2 NG_007087.1:g.13997G>T; NM_020638.3:c.367G>T; NP_065689.1:p.Gly123Trp1220533001444062
NM_020638.3:c.386C>TPalestineNC_000012.12:g.4370713G>APathogenicPathogenicTumoral Calcinosis, Hyperphosphatemic, Familial, 2 NG_007087.1:g.14016C>T; NM_020638.3:c.386C>T; NP_065689.1:p.Ser129Phe1048943445029
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