COL24A1

Chr 1

collagen type XXIV alpha 1 chain

NCBI Gene: 255631 ENSG00000171502 UniProt: Q17RW2 OMIM: 610025

This gene encodes a collagen family member that regulates type I collagen fibrillogenesis during fetal development. Mutations cause craniosynostosis, midfacial hypoplasia, foot abnormalities, and intellectual disability syndrome, which follows an autosomal dominant inheritance pattern. The gene is not highly constrained against loss-of-function variants, and the associated disorder primarily affects craniofacial development and cognitive function.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.91

LOEUF

Mechanism· predicted