Anti-Transmembrane protein 199 TMEM199 Antibody Picoband® Fluoro647 Conjugated

TMEM199 encodes a protein homologous to the yeast V-ATPase assembly factor Vma12 and appears to be involved in Golgi homeostasis. The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER) -Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) in some human cells. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. By genomic sequence analysis, the TMEM199 gene is mapped to chromosome 17q11.1.

Accessory component of the proton-transporting vacuolar (V) -ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe2+ prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation. May be involved in Golgi homeostasis.

1. Calvo, P. L., Pagliardini, S., Baldi, M., Pucci, A., Sturiale, L., Garozzo, D., Vinciguerra, T., Barbera, C., Jaeken, J. Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx. J. Inherit. Metab. Dis. 31: S437-S440, 2008. 2. Jansen, J. C., Timal, S., van Scherpenzeel, M., Michelakakis, H., Vicogne, D., Ashikov, A., Moraitou, M., Hoischen, A., Huijben, K., Steenbergen, G., van den Boogert, M. A. W., Porta, F., and 14 others. TMEM199 deficiency is a disorder of Golgi homeostasis characterized by elevated aminotransferases, alkaline phosphatase, and cholesterol and abnormal glycosylation. Am. J. Hum. Genet. 98: 322-330, 2016.

Endoplasmic reticulum membrane. Multi-pass membrane protein. COPI-coated vesicle membrane. Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Multi-pass membrane protein.