CRLF1
Encyclopedia
Cytokine receptor-like factor 1 is a protein
that in humans is encoded by the CRLF1 gene
.
family. The protein forms a secreted complex with cardiotrophin
-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells.
:
It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.
Other characteristic features in CRLF1 mutation include marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly
, a slender face with poor expression, a nose with hypoplastic nares, malar hypoplasia and prognathism
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the CRLF1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
This gene encodes a member of the cytokine type I receptorType I cytokine receptor
Type I cytokine receptors are transmembrane receptors expressed on the surface of cells that recognize and respond to cytokines with four α-helical strands. These receptors are also known under the name hemopoietin receptors, and share a common amino acid motif in the extracellular portion...
family. The protein forms a secreted complex with cardiotrophin
Cardiotrophin 1
Cardiotrophin-1 is a cytokine. It is a cardiac hypertrophic factor of 21.5 kDa and a protein member of the IL-6 cytokine family. CT-1 is associated with the pathophysiology of heart diseases, including hypertension, myocardial infarction, valvular heart disease, and congestive heart failure...
-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells.
Clinical significance
Mutations in this gene are associated with two conditions, both rareRare disease
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...
:
- Cold-induced sweating syndrome, characterized by profuse hyperhidrosisHyperhidrosisHyperhidrosis is the condition characterized by abnormally increased perspiration, in excess of that required for regulation of body temperature.-Classification:Hyperhidrosis can either be generalized or localized to specific parts of the body...
in cold environmental temperature and characteristic craniofacial and skeletal features) - Crisponi syndrome (CS), characterized by neonatal-onset paroxysmal muscular contractions, abnormal function of the autonomic nervous systemAutonomic nervous systemThe autonomic nervous system is the part of the peripheral nervous system that acts as a control system functioning largely below the level of consciousness, and controls visceral functions. The ANS affects heart rate, digestion, respiration rate, salivation, perspiration, diameter of the pupils,...
and craniofacial and skeletal manifestations such as thick and arched eyebrows, a short nose with anteverted nostrils, full cheeks, an inverted upper lip and a small mouth.
It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.
Other characteristic features in CRLF1 mutation include marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly
Dolichocephaly
Dolichocephaly is another word for scaphocephaly, a condition where the head is longer than would be expected, relative to the width of the head.It can present in cases of Sensenbrenner syndrome, Sotos syndrome, as well as Marfan syndrome.-External links:...
, a slender face with poor expression, a nose with hypoplastic nares, malar hypoplasia and prognathism
Prognathism
Prognathism is a term used to describe the positional relationship of the mandible and/or maxilla to the skeletal base where either of the jaws protrudes beyond a predetermined imaginary line in the coronal plane of the skull. In general dentistry, oral and maxillofacial surgery and orthodontics...
.