catalog number :
MBS9402524
products full name :
CRX Antibody
products short name :
[CRX]
products name syn :
[CRD; LCA7; OTX3; CORD2]
other names :
[cone-rod homeobox protein; Cone-rod homeobox protein; cone-rod homeobox protein; cone-rod homeobox]
products gene name :
[CRX]
other gene names :
[CRX; CRX; CRD; LCA7; OTX3; CORD2; CORD2]
uniprot entry name :
CRX_HUMAN
reactivity :
Human, Mouse, Rat
specificity :
The antibody detects endogenous level of total CRX protein.
purity :
Antibodies were purified by affinity purification using immunogen.
form :
Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
concentration :
1.0 mg/ml
storage stability :
Store at -20°C.
tested application :
Western Blot (WB), Immunohistochemistry (IHC)
app notes :
Western blotting: 1:500 - 1:2000. Immunohistochemistry: 1:50 - 1:200
image1 heading :
Western Blot (WB)
other info1 :
Immunogen Type: Recombinant Protein. Immunogen Description: Recombinant protein of human CRX.
other info2 :
Target Name: CRX
products categories :
Total protein Ab
products description :
The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.
ncbi acc num :
NP_000545.1
ncbi gb acc num :
NM_000554.4
ncbi mol weight :
SDS-PAGE MW: 32KD
ncbi summary :
The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
uniprot summary :
CRX: Binds and transactivates the sequence 5 -TAATC[CA]-3 which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, e.g. NRL and RX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors. Defects in CRX are the cause of Leber congenital amaurosis type 7 (LCA7). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in CRX are the cause of cone-rod dystrophy type 2 (CORD2); also known as cone-rod retinal dystrophy 2 (CRD2). CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Defects in CRX are a cause of retinitis pigmentosa (RP). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the paired homeobox family. Protein type: DNA-binding. Chromosomal Location of Human Ortholog: 19q13.3. Cellular Component: transcription factor complex; nucleus. Molecular Function: leucine zipper domain binding; protein binding; chromatin binding; transcription factor activity; nuclear hormone receptor binding. Biological Process: circadian rhythm; organ morphogenesis; visual perception; regulation of transcription, DNA-dependent; transcription, DNA-dependent; retina development in camera-type eye; positive regulation of photoreceptor cell differentiation; response to stimulus; positive regulation of transcription from RNA polymerase II promoter. Disease: Cone-rod Dystrophy 2; Leber Congenital Amaurosis 7; Retinitis Pigmentosa