The mfsd4b gene encodes a major facilitator superfamily domain-containing protein that functions as a sodium-dependent lysophosphatidylcholine symporter, facilitating the transport of lipid molecules a...[+]

The mfsd4b gene encodes a major facilitator superfamily domain-containing protein that functions as a sodium-dependent lysophosphatidylcholine symporter, facilitating the transport of lipid molecules across cell membranes. It is expressed in multiple tissues including the brain, eye, neural tube, spinal cord, and pronephros during development. The protein is localized to the plasma membrane. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD