This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]
Subcellular Location:
endoplasmic reticulum
Tissue Specificity:
Expressed neural retina, cornea, sclera and optic nerve.
DISEASE:
A developmental ocular disorder characterized by small malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks, tortuous vessels, and an abnormal foveal avascular zone.
SWISS:
P0CW18
Gene ID:
646960
Database links:
Entrez Gene: 646960 Human
Entrez Gene: 84618 Mouse
Entrez Gene: 363274 Rat
Omim: 613858 Human
SwissProt: P0CW18 Human
SwissProt: F2YMG0 Mouse
Unigene: 570310 Human
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