ATP-binding cassette sub-family B member 6 (ABCB6), uniquely...

created [InstanceEdit:5683366] Jassal, Bijay, 2015-03-13
dbId 5683352
displayName ATP-binding cassette sub-family B member 6 (ABCB6), uniquely...
schemaClass Summation
text 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).
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