Reaction: Defective ABCB6 does not transport porphyrin from cytosol into mitochondria matrix
- in pathway: Defective ABCB6 causes MCOPCB7
ATP-binding cassette sub-family B member 6 (ABCB6), uniquely located on the outer mitochondrial membrane in homodimeric form, plays a crucial role in haem synthesis by mediating porphyrin uptake into the mitochondria. Defects in ABCB6 can cause isolated colobomatous microphthalmia 7 (MCOPCB7; MIM:614497), a developmental defect of the eye resulting from abnormal or incomplete fusion of the optic fissure with associated microphthalmia (eyeballs are abnormally small). Coloboma is thought to play an important role in the early development of the CNS, including that of the eye. Mutations causing MCOPCB7 are L811V and A57T (Wang et al. 2012).
Reaction - small molecule participants:
porphyrin [cytosol]
H2O [cytosol]
ATP [cytosol]
Reactome.org reaction link: R-HSA-5683355
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Reaction input - small molecules:
porphyrin
water
ATP(4-)
Reaction output - small molecules:
Reactome.org link: R-HSA-5683355