CYTL1

Chr 4

cytokine like 1

Also known as: C17, C4orf4

NCBI Gene: 54360 ENSG00000170891 UniProt: Q9NRR1 OMIM: 607930

C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 surface marker. Mutations in CYTL1 cause autosomal recessive primary microcephaly, with affected individuals showing severe intellectual disability and developmental delays from early infancy. The gene is not highly constrained against loss-of-function variants, which is consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq

C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 (MIM 142230) surface marker (Liu et al., 2000 [PubMed 10857752]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.85

LOEUF

GOF

Mechanism· predicted