Defective STRA6 does not transport atROL

Stable Identifier
Reaction [transition]
Homo sapiens
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Defects in STRA6 cause microphthalmia syndromic type 9 (MCOPS9, Matthew-Wood syndrome or Spear syndrome; MIM:601186) (Chassaing et al. 2009). Mutiple systems are affected by this fatal syndrome including occular and cardiac abnormalities. Microphthalmia (also called microphthalmos, nanophthalmia or nanophthalmos) is a developmental disorder of the eye that literally means small eye and in most cases results in blindness. Common loss-of-function mutations causing MCOPS9 are P90L, P293L, and T321P, T644M, R655C (Pasutto et al. 2007) and W23* (West at al. 2009).
Literature References
PubMed ID Title Journal Year
17273977 Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Becker, C, Houge, G, Mortier, G, Fernández-Martínez, L, Keating, S, Chitayat, D, FitzPatrick, DR, Meinecke, P, Hennekam, RC, Gillessen-Kaesbach, G, von der Wense, A, Hammersen, G, Nürnberg, P, Bitoun, P, Brasch, F, Tolmie, JL, Slavotinek, A, Nürnberg, G, Rauch, A, Pasutto, F, Schirmer-Zimmermann, H, Sticht, H, Reis, A

Am. J. Hum. Genet. 2007
19213032 Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration

West, B, Bove, KE, Slavotinek, AM

Am. J. Med. Genet. A 2009
19309693 Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Attié-Bitach, T, Martinovic-Bouriel, J, Calvas, P, Masini, L, Manouvrier-Hanu, S, Vigouroux, A, Delezoide, AL, Tiziano, FD, Maragliano, G, Piro, F, Lequeux, L, Odent, S, Golzio, C, Chassaing, N, Etchevers, HC

Hum. Mutat. 2009
Normal reaction
Functional status

Loss of function of TTR:RBP4:atROL:STRA6 mutants [plasma membrane]

Name Identifier Synonyms
microphthalmia DOID:10629 simple microphthalmos, nanophthalmia, microphthalmos, nanophthalmos
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