TRPML1
TRPML1 (also known as Mucolipin-1) is a protein that in humans is encoded by the MCOLN1 gene. It is a member of the mucolipin family of Transient Receptor Potential (TRP) channels. Mutations in this gene are associated with the autosomal recessive disorder mucolipidosis type IV.
Function[edit | edit source]
TRPML1 is a member of the transient receptor potential (TRP) cation channel superfamily. The protein encoded by this gene is a member of the mucolipin subfamily. It is an inwardly rectifying, non-selective cation channel that is responsible for mediating calcium release from the lysosome.
Clinical significance[edit | edit source]
Mutations in the MCOLN1 gene are associated with mucolipidosis type IV (MLIV), an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
