TMEM30B
Description
The TMEM30B (transmembrane protein 30B) is a protein-coding gene located on chromosome 14.
TMEM30B is an accessory component of a P4-ATPase flippase complex that plays a critical role in phospholipid transport. This complex catalyzes the hydrolysis of ATP, which powers the movement of aminophospholipids from the outer to the inner leaflet of various cellular membranes. This process is essential for maintaining the asymmetric distribution of phospholipids, which is crucial for proper membrane function. TMEM30B may also assist in binding phospholipid substrates and contribute to vesicle formation and the uptake of lipid signaling molecules. Additionally, TMEM30B can mediate the export of alpha subunits (ATP8A1, ATP8B1, ATP8B2, and ATP8B4) from the endoplasmic reticulum (ER) to the plasma membrane.
TMEM30B is also known as CDC50B.
Associated Diseases
- uncombable hair syndrome
- Waardenburg syndrome, IIa 2F
- Tietz syndrome
- Griscelli syndrome type 3
- Clouston syndrome
- ermine phenotype
- Waardenburg syndrome type 2A
- asthma
