M6PR

Chr 12

mannose-6-phosphate receptor, cation dependent

Also known as: CD-M6PR, CD-MPR, MPR 46, MPR-46, MPR46, SMPR

NCBI Gene: 4074 ENSG00000003056 UniProt: P20645 OMIM: 154540

The protein functions as a mannose-6-phosphate receptor that transports phosphorylated lysosomal enzymes from the Golgi complex to lysosomes, forming homodimers and requiring divalent cations for ligand binding. Mutations cause autosomal recessive mucolipidosis II (I-cell disease) and mucolipidosis III (pseudo-Hurler polydystrophy), progressive lysosomal storage disorders affecting multiple organ systems including skeletal, cardiac, and neurological development. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern of associated diseases.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.76

LOEUF

Mechanism· predicted