Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene. [5] [6]
Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene. [5] [6]
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. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia (HLTS). [7] [6] An autosomal truncating dominant mutation in this gene has also been associated with renal failure in the condition hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS). [8] [9]
SOX18 has been shown to interact with:
Telangiectasias, from Greek: tel- (end) + angi- + ectasia, also known as spider veins, are small dilated blood vessels that can occur near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. These dilated blood vessels can develop anywhere on the body, but are commonly seen on the face around the nose, cheeks and chin. Dilated blood vessels can also develop on the legs, although when they occur on the legs, they often have underlying venous reflux or "hidden varicose veins". When found on the legs, they are found specifically on the upper thigh, below the knee joint and around the ankles.
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.
Forkhead box protein C2 (FOXC2) also known as forkhead-related protein FKHL14 (FKHL14), transcription factor FKH-14, or mesenchyme fork head protein 1 (MFH1) is a protein that in humans is encoded by the FOXC2 gene. FOXC2 is a member of the fork head box (FOX) family of transcription factors.
The nuclear receptor 4A3 (NR4A3) also known as neuron-derived orphan receptor 1 (NOR1) is a protein that in humans is encoded by the NR4A3 gene. NR4A3 is a member of the nuclear receptor family of intracellular transcription factors.
Myocyte-specific enhancer factor 2C also known as MADS box transcription enhancer factor 2, polypeptide C is a protein that in humans is encoded by the MEF2C gene. MEF2C is a transcription factor in the Mef2 family.
Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.
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-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.
SOX12 is a protein that in humans is encoded by the SOX12 gene. Sox12 belongs to the SoxC group of Sox family of transcription factors, together with Sox4 and Sox11. Sox12-null knockout mice appear normal, unlike Sox4 or Sox11 knockout mice. This probably comes from functional redundancy with Sox4 and Sox11. Sox12 is a weaker activator than both Sox4 and Sox11 in mouse.
Transcription factor SOX-14 is a protein that in humans is encoded by the SOX14 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.
Sharon Moalem is a Canadian–American physician, scientist, and author. Dr. Moalem is an expert in the fields of rare diseases, sex differentiation, neurogenetics, biotechnology and has been described as a polymath. He is the author of the New York Times bestselling book Survival of the Sickest, as well as How Sex Works, Inheritance and The Better Half. His clinical genetics research led to the discovery of three rare genetic syndromes, hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, a form of SRY-negative XX male sex reversal as well as a nephronopthisis associated ciliopathy. His research led to the discovery of a new class of antibiotics that specifically target superbug microorganisms such as Methicillin-resistant Staphylococcus aureus (MRSA). Moalem was the first to propose that the progressive neurodegeneration associated with dementia and Alzheimer's disease might be caused or exacerbated by an excessive amount of the metal iron in the brain. Moalem has cofounded two biotechnology companies and has been awarded 25 patents for his inventions in biotechnology and human health.
SRY-box 7 is a protein that in humans is encoded by the SOX7 gene.
Peter Anthony Koopman is an Australian biologist best known for his role in the discovery and study of the mammalian Y-chromosomal sex-determining gene, Sry.
{{cite journal}}: CS1 maint: multiple names: authors list (link)This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 | This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it. |