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Defective ABCD4 causes MAHCJ

Proteins (2)

ProteinSynonymsTaxonomy
Lysosomal cobalamin transporter ABCD4ATP-binding cassette sub-family D member 4; PMP70-related protein; P70R; Peroxisomal membrane protein 1-like; PXMP1-L; Peroxisomal membrane protein 69; PMP69Homo sapiens (human)
Lysosomal cobalamin transport escort protein LMBD1LMBD1; HDAg-L-interacting protein NESI; LMBR1 domain-containing protein 1; Nuclear export signal-interacting proteinHomo sapiens (human)

Compounds (3)

CompoundDescription
Cobalamins
WaterA clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
adenosine triphosphateAn adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.