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FGF13

From Wikipedia, the free encyclopedia
FGF13
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFGF13, FGF-13, FGF2, FHF-2, FHF2, fibroblast growth factor 13
External IDsOMIM: 300070; MGI: 109178; HomoloGene: 3036; GeneCards: FGF13; OMA:FGF13 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001290414
NM_001290415
NM_010200
NM_001356335

RefSeq (protein)

NP_001277343
NP_001277344
NP_034330
NP_001343264

Location (UCSC)Chr X: 138.61 – 139.22 MbChr X: 58.11 – 58.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Fibroblast growth factor 13 is a protein that in humans is encoded by the FGF13 gene.[5][6]

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, invasion, and neuronal physiology. This gene is located to a region associated with Börjeson-Forssman-Lehmann syndrome (BFLS), a syndromal X-linked intellectual disability, which suggests it may be a candidate gene for familial cases of the BFL syndrome. The function of this gene has not yet been determined. Several alternatively spliced transcripts encoding different isoforms have been described for this gene.[6] FGF13 isoform 1 (FGF13A) binds to the leucine-rich repeats of the hominid-specific receptor LRRC37B.[7] In human pyramidal neurons of the cerebral cortex, this interaction leads to a lower excitability,[7] a divergent cellular property of human pyramidal neurons compared to other mammals.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000129682Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031137Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Smallwood PM, Munoz-Sanjuan I, Tong P, Macke JP, Hendry SH, Gilbert DJ, Copeland NG, Jenkins NA, Nathans J (Oct 1996). "Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development". Proc Natl Acad Sci U S A. 93 (18): 9850–7. Bibcode:1996PNAS...93.9850S. doi:10.1073/pnas.93.18.9850. PMC 38518. PMID 8790420.
  6. ^ a b "Entrez Gene: FGF13 fibroblast growth factor 13".
  7. ^ a b c Libé-Philippot B, Lejeune A, Wierda K, Louros N, Erkol E, Vlaeminck I, Beckers S, Gaspariunaite V, Bilheu A, Konstantoulea K, Nyitrai H, De Vleeschouwer M, Vennekens KM, Vidal N, Bird TW (2023-12-21). "LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons". Cell. 186 (26): 5766–5783.e25. doi:10.1016/j.cell.2023.11.028. ISSN 0092-8674. PMC 10754148. PMID 38134874.

Further reading

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