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

Gene information from NCBI Gene. Variant classifications from ClinVar.