COL14A1

Chr 8

collagen type XIV alpha 1 chain

Also known as: UND

NCBI Gene: 7373 ENSG00000187955 UniProt: Q05707

The encoded protein is the alpha chain of type XIV collagen, which plays an adhesive role by integrating collagen bundles and regulating collagen fibril formation in connective tissues. Mutations cause Ehlers-Danlos syndrome, musculocontractural type 2, which follows an autosomal recessive inheritance pattern and presents with joint contractures, skin hyperextensibility, and musculoskeletal abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.535).

ResearchSummary from RefSeq, UniProt

This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.54

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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