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

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

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

• Transient receptor potential channel
• Mucolipidosis

External links

• NCBI Gene
• Genetics Home Reference

TRPML1 Resources
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