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Immunogen sequence: MDHITVPKV ENVKLVDRYV SKKPANGILY LTATHLIYVE ASGAARKETW IALHHIATVE KLPITSLGCP LTLRCKNFRV AHFVLDSDLV CHEVYISLLK LSQPALPEDL YAFSYNPKSS KEMRESGWKL IDPISDFGRM GIPNRNWTIT DANRNYEICS TYPPEIVVPK SVTLGTVVGS SKFRSKERVP VLSYLYKENN AAICRCSQPL SGFYTRCVDD ELLLEAISQT NPGSQFMYVV DTRPKLNAMA NRAAGKGYEN EDNYANIRFR FMGIENIHVM RSSLQKLLEV CELKTPTMSE FLSGLESS (1-307 aa encoded by BC012399)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Myotubularin-related protein 8; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8; Phosphatidylinositol-3-phosphate phosphatase
Gene Aliases: MTMR8
UniProt ID: (Human) Q96EF0
Entrez Gene ID: (Human) 55613
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