Mucolipin-1

Mucolipin-1

protein
Name=mucolipin 1
caption=


width=
HGNCid=13356
Symbol=MCOLN1
AltSymbols= TRPML1
EntrezGene=57192
OMIM=605248
RefSeq=NM_020533
UniProt=Q9GZU1
PDB=
ECnumber=
Chromosome=19
Arm=p
Band=13.2
LocusSupplementaryData=

Mucolipin-1 (TRPML1) is a 65 kDa protein associated with mucolipidosis type IV. Predicted structure includes six transmembrane domains, a transient receptor potential (TRP) cation-channel domain, and an internal channel pore.cite journal | author = Venugopal B, Browning MF, Curcio-Morelli C, Varro A, Michaud N, Nanthakumar N, Walkley SU, Pickel J, Slaugenhaupt SA | title = Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV | journal = Am. J. Hum. Genet. | volume = 81 | issue = 5 | pages = 1070–83 | year = 2007 | month = November | pmid = 17924347 | pmc = 2265643 | doi = 10.1086/521954 | url = | issn = ] TRPML1 is believed to channel iron ions across the endosome membrane into the cell and so its malfunction causes cellular iron deficiency. [cite journal |author= Dong, X, Cheng, X., Mills, E., Delling, M., Wang, F., Kurz, T. and Xu, H. |title=The Type IV Mucolipidosis-Associated Protein TRPML1 is an Endo-lysosomal Iron Release Channel |journal=Nature |year=2008 |doi=10.1038/nature07311]

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