ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6
Gene ID: 347365, updated on 14-Nov-2024Gene type: protein coding
Also known as: ITIH5L; UNQ6369; dJ14O9.1
- See all available tests in GTR for this gene
- Go to complete Gene record for ITIH6
- Go to Variation Viewer for ITIH6 variants
Summary
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]
Genomic context
- Location:
- Xp11.22
- Sequence:
- Chromosome: X; NC_000023.11 (54748918..54798255, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ITIH6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ITIH5L @ LOVD
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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