This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about N-acetylglucosamine-1-phosphotransferase subunits alpha/beta.
.
Human | |
---|---|
Gene Name: | GNPTAB |
Uniprot: | Q3T906 |
Entrez: | 79158 |
Belongs to: |
---|
stealth family |
DKFZp762B226; GlcNAc phosphotransferase; glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase; GNPTA; ICD; KIAA1208; MGC4170; N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; stealth protein GNPTAB; UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine
Mass (kDA):
143.622 kDA
Human | |
---|---|
Location: | 12q23.2 |
Sequence: | 12; NC_000012.12 (101745499..101830959, complement) |
Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
[N-acetylglucosamine-1-phosphotransferase subunit alpha]: Golgi apparatus membrane; Single-pass type I membrane protein.; [N-acetylglucosamine-1-phosphotransferase subunit beta]: Golgi apparatus membrane; Single-pass type II membrane protein.
PMID: 16200072 by Tiede S., et al. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
PMID: 16120602 by Kudo M., et al. The alpha- and beta-subunits of the human UDP-N- acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1- phosphotransferase are encoded by a single cDNA.