Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene.[5][6]

SOX5
Identifiers
AliasesSOX5, L-L-SOX5B, L-SOX5F, LAMSHF, SRY-box 5, SRY-box transcription factor 5
External IDsOMIM: 604975; MGI: 98367; HomoloGene: 21378; GeneCards: SOX5; OMA:SOX5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001113559
NM_001243163
NM_011444
NM_001347506

RefSeq (protein)

NP_001107031
NP_001230092
NP_001334435
NP_035574

Location (UCSC)Chr 12: 23.53 – 24.56 MbChr 6: 143.83 – 144.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[6]


Mutations in the SOX5 gene can cause Lamb-Shaffer syndrome.

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134532Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041540Ensembl, 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. ^ Wunderle VM, Critcher R, Ashworth A, Goodfellow PN (Sep 1996). "Cloning and characterization of SOX5, a new member of the human SOX gene family". Genomics. 36 (2): 354–8. doi:10.1006/geno.1996.0474. PMID 8812465.
  6. ^ a b "Entrez Gene: SOX5 SRY (sex determining region Y)-box 5".

Further reading

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