MTMR8 Chromosome X
Myotubularin related protein 8
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What This Gene Does
This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"Myotubularins|Phosphoinositide phosphatases"
Locus Type
gene with protein product
Location
Xq11.2
Ensembl
ENSG00000102043
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145085079 | Health Risk | Conflicting classifications of pathogenicity | — |