Cytokine receptor-like factor 1 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 ''CRLF1''
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
This gene encodes a member of the
cytokine type I receptor 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.
Clinical significance
Mutations in this gene are associated with two conditions, both
rare:
*Cold-induced sweating syndrome, characterized by profuse
hyperhidrosis
Hyperhidrosis is a condition characterized by abnormally increased sweating, in excess of that required for regulation of body temperature. Although primarily a benign physical burden, hyperhidrosis can deteriorate quality of life from a psychologi ...
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 system
The autonomic nervous system (ANS), formerly referred to as the vegetative nervous system, is a division of the peripheral nervous system that supplies viscera, internal organs, smooth muscle and glands. The autonomic nervous system is a control ...
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
Marfanoid (or Marfanoid habitus) is a constellation of Symptom, symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a ...
with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly
Dolichocephaly (derived from the Ancient Greek δολιχός 'long' and κεφαλή 'head') is a condition where the head is longer than would be expected, relative to its width. In humans, scaphocephaly is a form of dolichocephaly.
Dolichocep ...
, a slender face with poor expression, a nose with hypoplastic nares, malar hypoplasia Malar may refer to:
Places Tamil Nadu, India
* Malarajamkuppam, Kandamangalam block, Viluppuram Taluk, Viluppuram District
* Malarasankuppam, Gingee Taluk, Viluppuram District
* Thirumalarajapuram, Poonamallee Taluk, Thiruvallur District
* T ...
and prognathism
Prognathism, also called Habsburg jaw or Habsburgs' jaw primarily in the context of its prevalence amongst members of the House of Habsburg, is a positional relationship of the mandible or maxilla to the skeletal base where either of the jaws pr ...
.[
]
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Cold-Induced Sweating Syndrome including Crisponi Syndrome
OMIM enries on Cold-Induced Sweating Syndrome including Crisponi Syndrome
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