This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]
Function:
May play a role in eye development.
Subcellular Location:
Membrane; Single-pass type II membrane protein
Tissue Specificity:
Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.
DISEASE:
Nanophthalmos 2 (NNO2) [MIM:609549]: Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8
Microphthalmia, isolated, 5 (MCOP5) [MIM:611040]: A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 2 CUB domains.
Contains 1 FZ (frizzled) domain.
Contains 2 LDL-receptor class A domains.
SWISS:
Q9BY79
Gene ID:
83552
Database links:
Entrez Gene: 83552 Human
Entrez Gene: 315597 Rat
Omim: 606227 Human
SwissProt: Q9BY79 Human
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