Transcription factor SOX-14 is a protein that in humans is encoded by the SOX14 gene. [5] [6]
This intronless 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. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [6]
Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals. SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype.
SOX genes encode a family of transcription factors that bind to the minor groove in DNA, and belong to a super-family of genes characterized by a homologous sequence called the HMG-box. This HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species. Homologues have been identified in insects, nematodes, amphibians, reptiles, birds and a range of mammals. However, HMG boxes can be very diverse in nature, with only a few amino acids being conserved between species.
Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the TWIST1 gene.
The steroidogenic factor 1 (SF-1) protein is a transcription factor involved in sex determination by controlling the activity of genes related to the reproductive glands or gonads and adrenal glands. This protein is encoded by the NR5A1 gene, a member of the nuclear receptor subfamily, located on the long arm of chromosome 9 at position 33.3. It was originally identified as a regulator of genes encoding cytochrome P450 steroid hydroxylases, however, further roles in endocrine function have since been discovered.
Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.
Forkhead box protein L2 is a protein that in humans is encoded by the FOXL2 gene.
Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.
T-box transcription factor TBX5, is a protein that in humans is encoded by the TBX5 gene. Abnormalities in the TBX5 gene can result in altered limb development, Holt-Oram syndrome, Tetra-amelia syndrome, and cardiac and skeletal problems.
Transcription factor SOX-4 is a protein that in humans is encoded by the SOX4 gene.
Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene. This gene encodes a member of the SOX family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator.
Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene.
Transcription factor SOX-13 is a protein that in humans is encoded by the SOX13 gene.
Transcription factor SOX-6 is a protein that in humans is encoded by the SOX6 gene.
Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.
Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.
Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.
Protein SOX-15 is a protein that in humans is encoded by the SOX15 gene.
Transcription factor SOX-21 is a protein that in humans is encoded by the SOX21 gene. It is a member of the Sox gene family of transcription factors.
SRY -box 30 is a protein that in humans is encoded by the SOX30 gene.
SRY-box 7 is a protein that in humans is encoded by the SOX7 gene.
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: CS1 maint: DOI inactive as of November 2024 (link)