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, respon ...
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 b ...
.
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 psycholog ...
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 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 (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 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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