ITIH1 Chromosome 3
Inter-alpha-trypsin inhibitor heavy chain 1
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What This Gene Does
This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
Inter-alpha-trypsin inhibitor heavy chains
Locus Type
gene with protein product
Location
3p21.1
Ensembl
ENSG00000055957
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139822553 | Health Risk | Conflicting classifications of pathogenicity | — |