TMEM163
Function
Zinc ion transporter that mediates zinc efflux and plays a crucial role in intracellular zinc homeostasis (PubMed:25130899, PubMed:31697912, PubMed:36204728). Binds the divalent cations Zn(2+), Ni(2+), and to a minor extent Cu(2+) (By similarity). Is a functional modulator of P2X purinoceptors, including P2RX1, P2RX3, P2RX4 and P2RX7 (PubMed:32492420). Plays a role in central nervous system development and is required for myelination, and survival and proliferation of oligodendrocytes (PubMed:35455965).
Involvement in disease
Leukodystrophy, hypomyelinating, 25
HLD25
A form of hypomyelinating leukodystrophy, a group of heterogeneous disorders characterized by persistent deficit of myelin observed on brain imaging. HLD25 is an autosomal dominant form with onset in early infancy and characterized by nystagmus, hypotonia, and delayed global development. Most patients show gradual clinical improvement over time with resolution of the nystagmus in early childhood. Many achieve developmental milestones and may have normal cognition, although some affected individuals may have persistent neurologic deficits. Brain imaging shows hypomyelination that may also improve with time.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TMEM163 family.
Tissue Specificity
Widely expressed. High expression is detected in brain, lung and testis.
Cellular localization
- Cytoplasmic vesicle
- Secretory vesicle
- Synaptic vesicle membrane
- Multi-pass membrane protein
- Early endosome membrane
- Multi-pass membrane protein
- Late endosome membrane
- Multi-pass membrane protein
- Lysosome membrane
- Multi-pass membrane protein
- Cell membrane
- Multi-pass membrane protein
- Glutamatergic synaptic vesicles.
Alternative names
Transmembrane protein 163, TMEM163