LAPTM4A
Description
The LAPTM4A (lysosomal protein transmembrane 4 alpha) is a protein-coding gene located on chromosome 2.
LAPTM4A is a protein encoded by the LAPTM4A gene in humans. It contains four predicted transmembrane domains, suggesting a role in transporting molecules across membranes. While its exact function is unknown, studies on its mouse counterpart suggest involvement in transporting small molecules across endosomal and lysosomal membranes.
LAPTM4A may play a role in the movement of nucleosides and/or their modified forms between the cell's internal fluid (cytosol) and the space inside a membrane-enclosed compartment within the cell.
LAPTM4A is also known as HUMORF13, LAPTM4, MBNT, Mtrp.
Associated Diseases
- Brugada syndrome
- familial sick sinus syndrome
- Brugada syndrome 9
- acheiropody
- acromesomelic dysplasia 2C, Hunter-Thompson type
- hypertrophic cardiomyopathy 6
- acromesomelic dysplasia 2A
- long QT syndrome 13
- long QT syndrome 14
- tibia, hypoplasia or aplasia of, with polydactyly
- long QT syndrome 9
- familial atrial fibrillation
