Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7)

Stable Identifier
R-HSA-5683371
Type
Pathway
Species
Homo sapiens
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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 (Wang et al. 2012).

Literature References
PubMed ID Title Journal Year
22226084 ABCB6 mutations cause ocular coloboma

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

Am. J. Hum. Genet. 2012
Participants
Participant Of
Disease
Name Identifier Synonyms
microphthalmia 10629 simple microphthalmos, nanophthalmia, microphthalmos, nanophthalmos
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