AIRIM
Apoptosis Inducing Factor Regulator, IAP-Independent Mitochondrial
Gene Information Card
| Symbol | AIRIM |
|---|---|
| Full Name | Apoptosis Inducing Factor Regulator, IAP-Independent Mitochondrial |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 100526760 ncbi.nlm.nih.gov/gene/100526760 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q5T6F2 |
| OMIM ID | 618989 |
| HGNC ID | 37240 |
| Aliases | C1orf170, FLJ39653, MGC16384 |
Description
AIRIM (Apoptosis Inducing Factor Regulator, IAP-Independent Mitochondrial) is a protein-coding gene located on chromosome 1p36.22. It encodes a mitochondrial protein involved in the regulation of apoptosis independently of inhibitor of apoptosis proteins (IAPs). The gene is associated with mitochondrial function and cell death pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|
Mutation functional classification
Loss of Function (LOF)
Gain of Function (GOF)
Dominant Negative (DN)
View complete mutation data：
Protein Summary
The AIRIM protein is a mitochondrial regulator of apoptosis that functions independently of IAPs. It is involved in the intrinsic apoptotic pathway, potentially modulating mitochondrial membrane permeability and caspase activation. Further functional characterization is ongoing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
