ITIH1 Chromosome 3

Inter-alpha-trypsin inhibitor heavy chain 1
1 variant 1 Health Risk

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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
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS139822553 Health Risk Conflicting classifications of pathogenicity
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