LRRC75A
Leucine Rich Repeat Containing 75A
Gene Information Card
| Symbol | LRRC75A |
|---|---|
| Full Name | Leucine Rich Repeat Containing 75A |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 388407 ncbi.nlm.nih.gov/gene/388407 |
| Ensembl ID | ENSG00000187601 |
| UniProt ID | Q8N6T3 |
| OMIM ID | - |
| HGNC ID | HGNC:28668 |
| Aliases | MGC16384, FLJ32786 |
Description
LRRC75A (Leucine Rich Repeat Containing 75A) is a protein-coding gene located on chromosome 17q25.3. The encoded protein contains leucine-rich repeats, which are typically involved in protein-protein interactions. The specific biological function of LRRC75A is not fully characterized, but it is predicted to play a role in cellular signaling or structural processes. Expression data suggest broad tissue distribution with low to moderate levels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations reported | - | - |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Brain | 1.8 | Low |
| Lung | 1.5 | Low |
| Liver | 1.0 | Low |
| Kidney | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.5 | Low expression |
| HeLa | 1.9 | Low expression |
| K562 | 1.0 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | - | - | - |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data:
Protein Summary
The LRRC75A protein (UniProt Q8N6T3) is a 316-amino acid protein containing leucine-rich repeats. Its exact molecular function and cellular localization remain largely unknown, but it is predicted to be involved in protein-protein interactions. No significant functional studies have been published.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC75A Knockout HEK293 Cell Line | EDJ-KQ14142 | Human | 388341 | Details Get a Quote |
| LRRC75A Knockout HCT 116 Cell Line | EDJ-KQ44071 | Human | 388341 | Details Get a Quote |
| LRRC75A Knockout HeLa Cell Line | EDJ-KQ42844 | Human | 388341 | Details Get a Quote |
| LRRC75A Knockout A-549 Cell Line | EDJ-KQ68479 | Human | 388341 | Details Get a Quote |