Disease-gene associations mined from literature

Literature associating ABCD3 and congenital bile acid synthesis defect 5

ABCD3 [ENSP00000359233]

ATP-binding cassette, sub-family D (ALD), member 3; Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis. The nucleotide-binding fold acts as an ATP- binding subunit with ATPase activity.

Synonyms:  ABCD3,  ABCD3p,  hABCD3,  F5GYC1,  P28288 ...

Linkouts:  STRING  Pharos  UniProt  OMIM