KEGG Orthology (KO) [BR:ko00001]
09130 Environmental Information Processing
09131 Membrane transport
02010 ABC transporters
K05678 ABCD4, PXMP1L; ATP-binding cassette, subfamily D (ALD), member 4
09140 Cellular Processes
09141 Transport and catabolism
04146 Peroxisome
K05678 ABCD4, PXMP1L; ATP-binding cassette, subfamily D (ALD), member 4
09150 Organismal Systems
09154 Digestive system
04977 Vitamin digestion and absorption
K05678 ABCD4, PXMP1L; ATP-binding cassette, subfamily D (ALD), member 4
04980 Cobalamin transport and metabolism
K05678 ABCD4, PXMP1L; ATP-binding cassette, subfamily D (ALD), member 4
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
02000 Transporters
K05678 ABCD4, PXMP1L; ATP-binding cassette, subfamily D (ALD), member 4
Enzymes [BR:ko01000]
7. Translocases
7.6 Catalysing the translocation of other compounds
7.6.2 Linked to the hydrolysis of a nucleoside triphosphate
7.6.2.8 ABC-type vitamin B12 transporter
K05678 ABCD4, PXMP1L; ATP-binding cassette, subfamily D (ALD), member 4
Transporters [BR:ko02000]
ABC transporters, eukaryotic type
ABCD (ALD) subfamily
ABCD4 subgroup
K05678 ABCD4, PXMP1L; ATP-binding cassette, subfamily D (ALD), member 4
Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nurnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR
Title
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
