ITIH5

Chr 10

inter-alpha-trypsin inhibitor heavy chain 5

Also known as: ITI-HC5, PP14776

NCBI Gene: 80760 ENSG00000123243 UniProt: Q86UX2

The protein encoded by this gene is a heavy chain component of inter-alpha-trypsin inhibitor family members that stabilize the extracellular matrix and inhibit serine proteases, and may function as a tumor suppressor. This gene shows very low constraint against loss-of-function variants (pLI near zero, LOEUF 1.21), suggesting high tolerance to protein loss. No well-established Mendelian diseases have been definitively associated with mutations in this gene in the pediatric population.

ResearchSummary from RefSeq, UniProt

This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.21

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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