Defective STRA6 does not transport atROL

Stable Identifier
R-HSA-2453818
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
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
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

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

Am. J. Hum. Genet. 2007
19309693 Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

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

Hum. Mutat. 2009
Participants
Participant Of
Normal reaction
Disease
Name Identifier Synonyms
microphthalmia 10629 simple microphthalmos, nanophthalmia, microphthalmos, nanophthalmos
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