Recombinant Human Cytokine receptor-like factor 1 (CRLF1)

1. From these results we conclude that one should consider a CRLF1-related disorder in early onset achalasia even if other Crisponi or cold-induced sweating syndrome type 1 (CS/CISS1) related symptoms are missing. PMID: 27976805
2. we show in this series of 12 patients from four families, all previously unpublished, that the homogeneity of the recently described c.983dupG (p.Ser328Argfs *2) mutation in CRLF1 was associated with a highly variable degree of severity, and that the phenotype significantly overlaps with the recently described COG6-related anhidrosis syndrome (MIM#615328 PMID: 26804344
3. CLF-1, based on its binding site for CLC and on two additional and independent sites for CNTFRalpha and sorLA, is a key player in CLC and CNTFRalpha signaling and turnover. PMID: 26858303
4. Article reports 11 novel mutations in CRLF1 expanding the mutational spectrum of CRLF1 in the Crisponi/cold-induced sweating type 1 syndrome to a total of 35 variants. PMID: 24488861
5. The mutation detected in CRLF1 has not been described in patients with CISS1, but in one with CS. These data seem to support the theory that CS and CISS1 are variants of the same disorder. PMID: 24008591
6. Data indicate that CRLF1 serves its protective role by a cell autonomous mechanism that is independent of the gp130/JAK signaling pathway. PMID: 23818941
7. In idiopathic pulmonary fibrosis, CLF-1 is a selective stimulus of type II alveolar epithelial cells and may potentially drive an antifibrotic response by augmenting both T-helper-1-driven and T-regulatory-cell-driven inflammatory responses in the lung. PMID: 22429962
8. CRLF1 mutations showed that phenotypic severity of the two disorders: Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) mainly depends on altered kinetics of secretion of the mutated CRLF1 protein. PMID: 21326283
9. Our data suggest that the CRLF1/CLC complex disrupts cartilage homeostasis and promotes the progress of OA by enhancing the proliferation of chondrocytes and suppressing the production of cartilage matrix PMID: 19921088

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HGNC: 2364

OMIM: 272430

KEGG: hsa:9244

STRING: 9606.ENSP00000376188

UniGene: Hs.114948