background:
CHX10 is a 40kDa homeodomain protein of the paired-like class that is essential for development of the mammalian eye. Mutations in CHX10 cause microphthalmia, a cause of congenital blindness in humans, and the ocular retardation (or) phenotype in mice. In the developing mouse retina CHX10 is expressed in retinal progenitors, while in the mature retina, CHX10 expression becomes restricted to bipolar neurons. Concurrent with these expression patterns, the CHX10-/- (or) retina is thin due to a defect in proliferation of retinal progenitors, and lacks bipolar neurons. CHX10 is also expressed in the developing brainstem, thalamus, and spinal cord.
Function:
Plays a significant role in the specification and morphogenesis of the sensory retina. May also participate in the development of the cells of the inner nuclear layer, particularly bipolar cells (By similarity).
Subcellular Location:
Nucleus.
Tissue Specificity:
Abundantly expressed in retinal neuroblasts during eye development and in the inner nuclear layer of the adult retina. Within this layer, expression is stronger in the outer margin where bipolar cells predominate.
DISEASE:
Defects in VSX2 are the cause of microphthalmia isolated type 2 (MCOP2) [MIM:610093]; also known as isolated clinical anophthalmia. Microphthalmia is a clinically heterogeneous 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, cataractand other abnormalities like cataract may also be present.
Defects in VSX2 are the cause of microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092].
Defects in VSX2 are the cause of microphthalmia isolated with coloboma type 3 (MCOPCB3) [MIM:610092]; also known as isolated colobomatous microphthalmia 3. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).
Similarity:
Belongs to the paired homeobox family.
Contains 1 CVC domain.
Contains 1 homeobox DNA-binding domain.
Database links:
Entrez Gene: 338917 Human
Entrez Gene: 12677 Mouse
Entrez Gene: 17172 Rat
Omim: 142993 Human
SwissProt: P58304 Human
SwissProt: Q61412 Mouse
Unigene: 449771 Human
Unigene: 885 Mouse
Unigene: 92414 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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