ITIH6 Chromosome X
Inter-alpha-trypsin inhibitor heavy chain family member 6
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What This Gene Does
The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Inter-alpha-trypsin inhibitor heavy chains
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000102313
Associated Conditions (1)
Short stature
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143487597 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761191483 | Health Risk | Pathogenic | Short stature, Short stature |