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MCOLN1 : ウィキペディア英語版
MCOLN1

Mucolipin-1 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.
==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

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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