Regulatory factor X, 6 also known as DNA-binding protein RFX6 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''RFX6''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
The nuclear protein encoded by this gene is a member of the
regulatory factor X
Regulation is the management of complex systems according to a set of rules and trends. In systems theory, these types of rules exist in various fields of biology and society, but the term has slightly different meanings according to context. Fo ...
(RFX) family of
transcription factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The fu ...
s. Studies in mice suggest that this gene is specifically required for the differentiation of
islet cells for the production of
insulin
Insulin (, from Latin ''insula'', 'island') is a peptide hormone produced by beta cells of the pancreatic islets encoded in humans by the ''INS'' gene. It is considered to be the main anabolic hormone of the body. It regulates the metabolism o ...
, but not for the differentiation of
pancreatic polypeptide-producing cells. It regulates the transcription factors involved in
beta-cell
Beta cells (β-cells) are a type of cell (biology), cell found in pancreatic islets that synthesize and secrete insulin and amylin. Beta cells make up 50–70% of the cells in human islets. In patients with Type 1 diabetes, beta-cell mass and fun ...
maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes.
Clinical significance
Mutations in this gene are associated with
Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic
hypoplasia
Hypoplasia (from Ancient Greek ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ.atresia
Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.
Examples of atresia include:
*Aural atresia, a congenital deformity where the ear canal is underdeveloped.
* Biliary atresia, a condition i ...
, and gall bladder agenesis.
References
Further reading
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Transcription factors
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