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MTMR9

Synonyms
C8orf9, LIP-STYX, MTMR8
External resources
Summary
This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
43,153
Likely benign
1,026
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on MTMR9 gene.

Phenotype class
Patients in 3billion (%)

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