TMEM199
Function
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). Binds 20(S)-hydroxycholesterol (20(S)-OHC) (By similarity).
Involvement in disease
Congenital disorder of glycosylation 2P
CDG2P
A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2P is characterized by mild metabolic dysfunction, primarily affecting the liver. Psychomotor development is normal.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Cytoplasmic vesicle
- COPI-coated vesicle membrane
- Multi-pass membrane protein
- Endoplasmic reticulum-Golgi intermediate compartment membrane
- Multi-pass membrane protein
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Partial colocalization with GOLGB1.
Alternative names
C17orf32, TMEM199, Transmembrane protein 199