CRLF1

From WikiMD's Wellness Encyclopedia


Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene.[1][2]

Function[edit | edit source]

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.[2]

Clinical significance[edit | edit source]

Mutations in this gene are associated with two conditions, both rare:

  • Cold-induced sweating syndrome, characterized by profuse hyperhidrosis in cold environmental temperature and characteristic craniofacial and skeletal features)[3][4]
  • 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.[3]

It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.[3] 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.[3]

References[edit | edit source]

  1. 2.0 2.1 "Entrez Gene: CRLF1 cytokine receptor-like factor 1".
  2. 3.0 3.1 3.2 3.3

Further reading[edit | edit source]

External links[edit | edit source]

This concise article on CRLF1 incorporates public domain text from the US National Library of Medicine.



Contributors: Prab R. Tumpati, MD