Disease-gene associations mined from literature

Literature associating MFSD2B and Seckel syndrome 1

MFSD2B [ENSP00000385527]

Major facilitator superfamily domain-containing protein 2B; Cation-dependent lipid transporter that specifically mediates export of sphingosine-1-phosphate in red blood cells and platelets. Sphingosine-1-phosphate is a signaling sphingolipid and its export from red blood cells into in the plasma is required for red blood cell morphology (By similarity). Does not transport lysophosphatidylcholine (LPC) (By similarity).

Synonyms:  MFSD2B,  MFSD2Bp,  hMFSD2B,  A6NFX1,  H7BZN4 ...

Linkouts:  STRING  Pharos  UniProt