Aliases for TMEM199 Gene
External Ids for TMEM199 Gene
Previous HGNC Symbols for TMEM199 Gene
Previous GeneCards Identifiers for TMEM199 Gene
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. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]
GeneCards Summary for TMEM199 Gene
TMEM199 (Transmembrane Protein 199) is a Protein Coding gene. Diseases associated with TMEM199 include Congenital Disorder Of Glycosylation, Type Iip and Congenital Disorder Of Glycosylation, Type Ii.
UniProtKB/Swiss-Prot Summary for TMEM199 Gene
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 Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833330).