ITIH6 Gene - Inter-Alpha-Trypsin Inhibitor Heavy Chain 6
A member of the inter-alpha-trypsin inhibitor family involved in extracellular matrix stabilization and potential roles in cancer and inflammatory diseases.
Gene Information Card
| Symbol | ITIH6 |
|---|---|
| Full Name | Inter-Alpha-Trypsin Inhibitor Heavy Chain 6 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.22 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000147133 |
| UniProt ID | Q6UXX9 |
| OMIM ID | 191170 |
| HGNC ID | 6168 |
| Aliases | ITIH6, IHRP, ITI-HC6, ITIH6_HUMAN |
Description
ITIH6 encodes a member of the inter-alpha-trypsin inhibitor (ITI) heavy chain family. These proteins are components of the extracellular matrix and are involved in hyaluronan binding and stabilization. ITIH6 is primarily expressed in the liver and is implicated in inflammatory responses, cancer progression, and connective tissue disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered ITIH6 expression may affect extracellular matrix remodeling and tumor invasion. | NCBI Gene, PubMed |
| Osteoarthritis | ITIH6 polymorphisms associated with cartilage degradation and disease susceptibility. | OMIM, ClinVar |
| Inflammatory bowel disease | ITIH6 levels correlate with inflammation and tissue damage in colitis models. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 3.2 | Low |
| Lung | 1.8 | Low |
| Testis | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 8.7 | Hepatocellular carcinoma cell line |
| HEK293 | 1.2 | Embryonic kidney cells |
| A549 | 0.5 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | p.Arg412Cys; potential loss of function |
| c.567delA | Frameshift | <0.01% | p.Lys189fs; predicted protein truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Inter-alpha-trypsin inhibitor pathway (Reactome: R-HSA-166658)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
ITIH6 is a secreted glycoprotein that forms complexes with other ITI heavy chains and bikunin. It binds hyaluronan, contributing to extracellular matrix stability and anti-proteolytic activity. The protein is expressed in liver and serum, and its dysregulation is linked to cancer, inflammation, and joint diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITIH6 Knockout HEK293 Cell Line | EDJ-KQ13870 | Human | 347365 | Details Get a Quote |
| ITIH6 Knockout HeLa Cell Line | EDJ-KQ59811 | Human | 347365 | Details Get a Quote |
| ITIH6 Knockout A-549 Cell Line | EDJ-KQ68279 | Human | 347365 | Details Get a Quote |
| ITIH6 Knockout HCT 116 Cell Line | EDJ-KQ76654 | Human | 347365 | Details Get a Quote |
