LP417396-1
GNPTAB gene
Active
Description
The GNPTAB gene (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) [HGNC Gene ID:29670] is located on chromosome 12q23.2. This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010] [NCBI Gene ID:79158] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- GNPTAB gene
- Part Display Name
- GNPTAB gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-01-13
- Construct for LOINC Short Name
- GNPTAB
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | GNPTAB-gen |
| zh-CN | Chinese (China) | GNPTAB 基因 Synonyms: N-Acetylglucosamine-1-Phosphate N-乙酰氨基葡萄糖-1-磷酸转移酶α和β亚基基因; |
| fr-FR | French (France) | GNPTAB gène |
| it-IT | Italian (Italy) | GNPTAB, gene |
| es-ES | Spanish (Spain) | Gen GNPTAB |
| pl-PL | Polish (Poland) | GNPTAB gen Synonyms: GNPTAB gen |
| el-GR | Greek (Greece) | Γονίδιο GNPTAB Synonyms: Γονίδιο GNPTAB |
LOINC Copyright
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