MFSD12
Description
The MFSD12 (major facilitator superfamily domain containing 12) is a protein-coding gene located on chromosome 19.
MFSD12 is a transporter protein that facilitates the import of cysteine into melanosomes and lysosomes. In melanosomes, MFSD12 is involved in regulating skin pigmentation by ensuring normal levels of cystine, the oxidized form of cysteine, and providing cysteine for pheomelanin synthesis. In non-pigmented cells, MFSD12 regulates the storage of cystine and cysteine in lysosomes, playing a crucial role in maintaining redox homeostasis.
MFSD12 is also known as C19orf28, PP3501, SLC59B1.
Associated Diseases
- Griscelli syndrome type 3
- uncombable hair syndrome
- microcephaly-albinism-digital anomalies syndrome
- ringed hair disease
- pili bifurcati
- oculocutaneous albinism type 3
- Tietz syndrome
