POMGNT1
- Aliases
-
- FLJ20277
- GNTI.2
- GnT I.2
- GnT-I.2
- LGMD2O
- LGMDR15
- MEB
- MGAT1.2
- Muscle-Eye-Brain Disease
- N-Acetylglucosaminyltransferase 1 (Beta 1,2-)
- POMGNT1
- POMGnT1
- Protein O-Linked Mannose
- Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase
- Protein O-Linked-Mannose Beta-1,2-N-Acetylglucosaminyltransferase 1
- Protein O-Mannose Beta-1,2-N-Acetylglucosaminyltransferase
- RP76
- UDP-GlcNAc:Alpha-D-Mannoside Beta-1,2-N-Acetylglucosaminyltransferase I.2
- Description
- From NCBI Gene: This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
Attributes
- QA State
- Under Review
- Type
- Protein
- HGNC Name
- POMGNT1
- Certifications
-
- None
- QA State for Breast
- Under Review
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.