This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Function:
May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter.
Subcellular Location:
Nucleus.
DISEASE:
Defects in RAX2 are the cause of age-related macular degeneration type 6 (ARMD6) [MIM:613757]. ARMD is in most patients manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch's membrane. ARMD is likely to be a mechanistically heterogeneous group of disorders.
Defects in RAX2 are the cause of cone-rod dystrophy type 11 (CORD11)
[MIM:610381]. CORD is characterized by the initial degeneration of cone photoreceptor cells, thus causing early loss of visual acuity and color vision, followed by the degeneration of rod photoreceptor cells and leading to progressive night blindness and peripheral visual field loss.
Similarity:
Contains 1 homeobox DNA-binding domain.
SWISS:
Q96IS3
Gene ID:
84839
Database links:
Entrez Gene: 84839 Human
Omim: 610362 Human
SwissProt: Q96IS3 Human
Unigene: 532691 Human
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