DISEASES

Disease-gene associations mined from literature

Literature associating ABCA3 and autosomal recessive congenital ichthyosis

ABCA3 [ENSP00000301732]

ATP-binding cassette, sub-family A (ABC1), member 3; Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol; Belongs to the ABC transporter superfamily. ABCA family.

Synonyms:  ABCA3,  ABCA3p,  hABCA3,  H0Y3H2,  Q4LE27 ...

Linkouts:  STRING  Pharos  UniProt  OMIM