MFSD1

major facilitator superfamily domain containing 1

Summary

Enables dipeptide uniporter activity. Involved in dipeptide transmembrane transport from lysosomal lumen to cytosol. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants34 total

rsidPosition (GRCh37)AllelesClassClinVar
rs21081977453:158,519,832T/G—uncertain significance
rs7644891923:158,519,865C/T—uncertain significance
rs24731973463:158,519,899T/G—likely benign
rs7469035973:158,520,021C/G—uncertain significance
rs7712783533:158,522,159G/A—uncertain significance
rs7553501053:158,523,247C/G—uncertain significance
rs17296784493:158,523,251T/C—uncertain significance
rs3715097413:158,525,185G/A—uncertain significance
rs5592155773:158,525,195C/T—uncertain significance
rs3716093663:158,527,008G/A—uncertain significance
rs3759125803:158,527,009C/T—uncertain significance
rs7528472953:158,531,794C/G—uncertain significance
rs9452994483:158,531,824G/T—uncertain significance
rs7476209433:158,531,835C/T—uncertain significance
rs3703270233:158,531,851T/C—uncertain significance
rs7535350233:158,537,447C/T—uncertain significance
rs7687797463:158,537,475G/C—uncertain significance
rs17305737783:158,537,477C/T—likely benign
rs7730623153:158,538,066A/C—uncertain significance
rs7685539303:158,539,393T/G—uncertain significance
rs1487019243:158,539,799T/Amissense variant—
rs7467173353:158,539,861G/A—uncertain significance
rs1421460773:158,539,879G/A—uncertain significance
rs7597383763:158,539,890G/A—uncertain significance
rs7465231173:158,539,928T/C—uncertain significance
rs1507728113:158,541,236A/G—uncertain significance
rs13995349973:158,541,239C/T—uncertain significance
rs9302606383:158,541,277G/A—uncertain significance
rs7750313753:158,541,283C/T—uncertain significance
rs3720914953:158,541,971C/G—uncertain significance
rs7781687863:158,542,017G/C—uncertain significance
rs7456225503:158,543,842C/T—uncertain significance
rs2006602223:158,543,843G/A—uncertain significance
rs7693946883:158,545,099G/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.