Defective ABCB6 does not transport porphyrin from cytosol into mitochondria matrix

Stable Identifier
R-HSA-5683355
Type
Reaction [transition]
Species
Homo sapiens
Compartment
mitochondrial outer membrane, cytosol
ReviewStatus
5/5
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Defective ABCB6 does not transport porphyrin from cytosol into mitochondria matrix
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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).
Literature References
PubMed ID Title Journal Year
22226084 ABCB6 mutations cause ocular coloboma

Namburi, P, Du, W, Yang, Z, Li, W, Wang, L, Li, DY, Gong, B, He, F, Bu, J, Jia, Y, Soltis, KA, Cooney, JD, Dong, J, Liu, X, Li, J, Phillips, JD, Shi, Y, Sundaresan, P, Lu, F, Paw, BH, Liang, C, McBride, PF, Lin, Y, Wang, L, Zhen, Y, Dubey, SK, Liu, X

Am. J. Hum. Genet. 2012
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Catalyst Activity

ABC-type heme transporter activity of ABCB6 mutants [mitochondrial outer membrane]

Physical Entity
ABCB6 mutants [mitochondrial outer membrane] (Homo sapiens)
Activity
ABC-type heme transporter activity (GO:0015439)
Normal reaction
ABCB6 transports porphyrin from cytosol to mitchondrial matrix (Homo sapiens)
Functional status

Loss of function of ABCB6 mutants [mitochondrial outer membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
microphthalmia DOID:10629 simple microphthalmos, nanophthalmia, microphthalmos, nanophthalmos
Authored
Jassal, B  (2015-03-13)
Reviewed
Moitra, K  (2015-04-28)
Created
Jassal, B  (2015-03-13)
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