- Daftar gen penyandi protein pada manusia/2
- MCOLN1
- Mucolipidosis type IV
- Human genome
- List of human protein-coding genes 2
- Medical genetics of Jews
- TRPML
- Transient receptor potential channel
- MCOLN2
- Cation channel superfamily
- CD320
mcoln1
MCOLN1 GudangMovies21 Rebahinxxi LK21
Mucolipin-1 (ML1) also known as TRPML1 (transient receptor potential cation channel, mucolipin subfamily, member 1) is a protein that in humans is encoded by the MCOLN1 gene. It is a member of the small family of the TRPML channels, a subgroup of the large protein family of TRP ion channels.
TRPML1 is a 65 kDa protein associated with mucolipidosis type IV. Its predicted structure includes six transmembrane domains, a transient receptor potential (TRP) cation-channel domain, and an internal channel pore. TRPML1 is believed to channel iron ions across the endosome/lysosome membrane into the cell and so its malfunction causes cellular iron deficiency. It is important in lysosome function and plays a part in processes such as vesicular trafficking, exocytosis and autophagy.
Ligands
Agonists
ML-SA1
MK6-83
See also
transient receptor potential cation channel, mucolipin subfamily, member 2 (MCOLN2)
transient receptor potential cation channel, mucolipin subfamily, member 3 (MCOLN3)
mucolipidosis type IV
TRPML
References
External links
GeneReviews/NIH/NCBI/UW entry on Mucolipidosis IV
mucolipin-1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)