LHFPL4
Description
The LHFPL4 (LHFPL tetraspan subfamily member 4) is a protein-coding gene located on chromosome 3.
LHFPL4 contributes to the formation and proper functioning of inhibitory synapses, primarily by ensuring the correct localization of gamma-aminobutyric acid receptors (GABAARs) and their supporting scaffold proteins within these synapses. This protein works alongside NLGN2 to recruit or stabilize these GABAARs, ensuring their efficient operation.
LHFPL4 is also known as GARLH4.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- type 2 diabetes mellitus
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- colorectal cancer
- COVID-19
