MCOLN3 - mucolipin TRP cation channel 3 Gene
Also Known as TRPML3; TRP-ML3
Species: Homo sapiens
About MCOLN3
This gene has 6 transcripts (splice variants), 261 orthologues and 2 paralogues. Biased expression in adrenal (RPKM 27.0), skin (RPKM 3.3) and 5 other tissues.
Summary
This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
MCOLN3 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001253693.2 | NP_001240622.1 | mucolipin-3 isoform 2 |
| NM_018298.11 | NP_060768.8 | mucolipin-3 isoform 1 |
MCOLN3 Protein Structure
PKD_channel: Polycystin cation channel (372 - 508)
- 0
- 100
- 200
- 300
- 400
- 500
- 553 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
mucolipin-3 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mucolipidosis Iv |
|
|
| Mucolipidosis |
|
Related Agents
- Pre-clinical Phase
Pre-clinical Phase
| Cat. No. | Product Name |
Effect
|
Purity |
Rare Diseases
|
|---|---|---|---|---|
| HY-RS08246 | MCOLN3 Human Pre-designed siRNA Set A | Pre-designed Set | / | Unkown |
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