Human retina and anterior neural fold homeobox 2 ELISA Kit | RAX2 elisa kit

Human Retina and anterior neural fold homeobox protein 2, RAX2 ELISA Kit

Cat. Num. AAA9320538

• Gene Names: RAX2; QRX; ARMD6; RAXL1; CORD11
• Reactivity: Human
• Synonyms: retina and anterior neural fold homeobox 2; Human Retina and anterior neural fold homeobox protein 2; RAX2 ELISA Kit; Human Retina and anterior neural fold homeobox protein 2 (RAX2) ELISA kit; ARMD6; CORD11; MGC15631; QRX; RAXL1; Q50-type retinal homeobox; retina and anterior neural fold homeobox like 1; RAX2 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 14249388
• NCBI GeneID: 84839
• NCBI Accession #: NP_116142.1
• NCBI GenBank Nucleotide #: NM_032753.3
• UniProt Accession #: Q96IS3
• Molecular Weight: 20,086 Da
• NCBI Official Full Name: retina and anterior neural fold homeobox protein 2
• NCBI Official Synonym Full Names: retina and anterior neural fold homeobox 2
• NCBI Official Symbol: RAX2
• NCBI Official Synonym Symbols: QRX; ARMD6; RAXL1; CORD11
• NCBI Protein Information: retina and anterior neural fold homeobox protein 2; Q50-type retinal homeobox protein; retina and anterior neural fold homeobox like 1; retina and anterior neural fold homeobox-like protein 1
• UniProt Protein Name: Retina and anterior neural fold homeobox protein 2
• Protein Family: Retina and anterior neural fold homeobox protein
• UniProt Gene Name: RAX2
• UniProt Synonym Gene Names: QRX; RAXL1
• UniProt Entry Name: RAX2_HUMAN

NCBI Description

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. [provided by RefSeq, Jul 2008]

Uniprot Description

RAX2: May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter. Defects in RAX2 are the cause of age-related macular degeneration type 6 (ARMD6). 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). 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.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: nucleus

Molecular Function: sequence-specific DNA binding

Biological Process: transcription, DNA-dependent; regulation of transcription, DNA-dependent; visual perception; response to stimulus

Disease: Cone-rod Dystrophy 11; Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2; Macular Degeneration, Age-related, 6