MFSD12
major facilitator superfamily domain containing 12
Summary
Enables cysteine transmembrane transporter activity. Involved in cysteine transmembrane transport; pigment metabolic process involved in pigmentation; and regulation of melanin biosynthetic process. Located in lysosome and melanosome. Part of late endosome. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12984831 | 19:3,540,539 | G/T | — | — |
| rs12608592 | 19:3,542,983 | C/T | splice region variant | — |
| rs7252773 | 19:3,544,874 | G/A | — | benign |
| rs10424065 | 19:3,545,022 | C/T | — | benign |
| rs878493 | 19:3,546,185 | G/A | — | benign |
| rs34878396 | 19:3,546,264 | C/T | — | likely benign |
| rs567160205 | 19:3,546,335 | G/A | — | likely benign |
| rs11555328 | 19:3,546,340 | G/A | — | benign |
| rs2240751 | 19:3,548,231 | A/G | missense variant | — |
| rs61733854 | 19:3,551,125 | C/T | — | likely benign |
| rs1627527 | 19:3,555,498 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.