MCOLN3

protein
name = mucolipin 3
caption =


width =
HGNCid = 13358
Symbol = MCOLN3
AltSymbols = TRPML3
EntrezGene = 55283
OMIM = 607400
RefSeq = NM_018298
UniProt = Q8TDD5
PDB =
ECnumber =
Chromosome = 1
Arm = p
Band = 22.3
LocusSupplementaryData =

Mucolipin 3 also known as MCOLN3 or TRPML3 is a human gene. The protein encoded by this gene is a inward rectifying cation channel.cite journal | author = Clapham DE, Julius D, Montell C, Schultz G | title = International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels | journal = Pharmacol. Rev. | volume = 57 | issue = 4 | pages = 427–50 | year = 2005 | month = December | pmid = 16382100 | doi = 10.1124/pr.57.4.6 | url = | issn = ]

Mutations of MCOLN3 in mice result in auditory hair cell death and deafness.cite journal | author = Nagata K, Zheng L, Madathany T, Castiglioni AJ, Bartles JR, García-Añoveros J | title = The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 105 | issue = 1 | pages = 353–8 | year = 2008 | month = January | pmid = 18162548 | pmc = 2224216 | doi = 10.1073/pnas.0707963105 | url = | issn = ]

ee also

* TRPML

References

External links

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