Disease-gene associations mined from literature

Literature associating ABCA4 and Van der Woude syndrome

ABCA4 [ENSP00000359245]

ATP-binding cassette, sub-family A (ABC1), member 4; In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans- retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.

Synonyms:  ABCA4,  ABCA4p,  hABCA4,  ABCR,  F5H5R2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM