Harman Patil (Editor)

CRLF1

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Species
  
Human

Entrez
  
9244

Human
  
Mouse

Ensembl
  
ENSG00000006016

CRLF1

Aliases
  
CRLF1, CISS, CISS1, CLF, CLF-1, NR6, zcytor5, cytokine receptor like factor 1

External IDs
  
MGI: 1340030 HomoloGene: 3489 GeneCards: CRLF1

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

Contents

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 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, a slender face with poor expression, a nose with hypoplastic nares, malar hypoplasia and prognathism.

    References

    CRLF1 Wikipedia
    (Text) CC BY-SA