Metabolism Antibodies 2
Anti-GUCY2D Antibody (CAB3605)
- SKU:
- CAB3605
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Metabolism
Description
Antibody Name: | Anti-GUCY2D Antibody |
Antibody SKU: | CAB3605 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 52-350 of human GUCY2D (NP_000171.1). |
Application: | WB |
Recommended Dilution: | WB 1:200 - 1:2000 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | Mouse brain, Mouse spinal cord, Mouse kidney |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 52-350 of human GUCY2D (NP_000171.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | AVFT VGVL GPWA CDPI FSRA RPDL AARL AAAR LNRD PGLA GGPR FEVA LLPE PCRT PGSL GAVS SALA RVSG LVGP VNPA ACRP AELL AEEA GIAL VPWG CPWT QAEG TTAP AVTP AADA LYAL LRAF GWAR VALV TAPQ DLWV EAGR SLST ALRA RGLP VASV TSME PLDL SGAR EALR KVRD GPRV TAVI MVMH SVLL GGEE QRYL LEAA EELG LTDG SLVF LPFD TIHY ALSP GPEA LAAL ANSS QLRR AHDA VLTL TRHC PSEG SVLD SLRR AQER RELP SDLN LQQV SPLF GTI |
Gene ID: | 3000 |
Uniprot: | Q02846 |
Cellular Location: | Membrane, Single-pass type I membrane protein |
Calculated MW: | 120kDa |
Observed MW: | 95kDa |
Synonyms: | GUCY2D, CORD5, CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC |
Background: | This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. |
UniProt Protein Function: | GUCY2D: Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction. Defects in GUCY2D are the cause of Leber congenital amaurosis type 1 (LCA1). 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 GUCY2D are the cause of cone-rod dystrophy type 6 (CORD6). 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. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. |
UniProt Protein Details: | Protein type:Nucleotide Metabolism - purine; Guanylyl cyclase; Membrane protein, integral; Protein kinase, RGC; Protein kinase, dual-specificity (receptor); EC 4.6.1.2; Lyase; Receptor, misc.; Kinase, protein; RGC group; RGC family Chromosomal Location of Human Ortholog: 17p13.1 Cellular Component: nuclear outer membrane; integral to plasma membrane Molecular Function:guanylate cyclase activity; GTP binding; receptor activity; ATP binding; protein kinase activity Biological Process: rhodopsin mediated signaling; cGMP biosynthetic process; phototransduction, visible light; regulation of rhodopsin mediated signaling; visual perception; receptor guanylyl cyclase signaling pathway; protein amino acid phosphorylation Disease: Leber Congenital Amaurosis 1; Cone-rod Dystrophy 6 |
NCBI Summary: | This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008] |
UniProt Code: | Q02846 |
NCBI GenInfo Identifier: | 1345920 |
NCBI Gene ID: | 3000 |
NCBI Accession: | Q02846.2 |
UniProt Related Accession: | Q02846 |
Molecular Weight: | ~ 95kDa |
NCBI Full Name: | Retinal guanylyl cyclase 1 |
NCBI Synonym Full Names: | guanylate cyclase 2D, retinal |
NCBI Official Symbol: | GUCY2D |
NCBI Official Synonym Symbols: | LCA; CG-E; CYGD; LCA1; RCD2; CACD1; CORD5; CORD6; GUC2D; ROSGC; retGC; CSNB1I; GUC1A4; RETGC-1; ROS-GC1 |
NCBI Protein Information: | retinal guanylyl cyclase 1 |
UniProt Protein Name: | Retinal guanylyl cyclase 1 |
UniProt Synonym Protein Names: | Guanylate cyclase 2D, retinal; Rod outer segment membrane guanylate cyclase; ROS-GC |
Protein Family: | Retinal guanylyl cyclase |
UniProt Gene Name: | GUCY2D |
UniProt Entry Name: | GUC2D_HUMAN |