SOX1
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RefSeq (mRNA) | |||||||||
RefSeq (protein) | |||||||||
Location (UCSC) | Chr 13: 112.07 – 112.07 Mb | Chr 8: 12.45 – 12.45 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
SOX1 is a gene that encodes a
SOX1 exerts its importance in its role in development of the
Clinical significance and research
Striatum development
SOX1 is expressed particularly in the
Lens development
SOX1 has shown clinical significance in its direct regulation of gamma-crystallin genes, which is vital for lens development in mice. Gamma-crystallins serve as a key structural component in lens fiber cells in both mammals and amphibians. Research has shown direct deletion of the SOX1 gene in mice causes cataracts and microphthalmia. These mutant lenses fail to elongate due to the absence of gamma-crystallins.[9]
SOXB1 group redundant roles
SOX1 is a member of the SOX gene family, in particular the SOXB1 group, which includes SOX1, SOX2, and SOX3. The SOX gene family encodes transcription factors. It is suggested the three members of the SOXB1 group have redundant roles in the development of neural stem cells. This group of SOX genes regulate neural progenitor identity. Each of these proteins have unique neural markers. Overexpression of either SOX1, SOX2, or SOX 3 increases neural progenitors and prevents neural differentiation. In non-mammalian vertebrates, loss of one SOXB1 protein results in minor phenotypic differences. This supports the claim that SOXB1 group proteins have redundant roles.[10]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000182968 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000096014 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ S2CID 8943181.
- PMID 17056008.
- ^ "A role for SOX1 in neural determination".
- S2CID 5762525.
- PMID 9512512.
- PMID 21147085.