Symbol: Name: ID: |
RAX2 retina and anterior neural fold homeobox 2 GFS:7159 |
Gene name: | RAX2 |
Chromosome: | 19p13.3 |
Previous Symbols: | RAXL1 |
Previous Names: | retina and anterior neural fold homeobox like 1 |
Aliases: | MGC15631 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | Rat Genome Database ID: | ||
HGNC ID: | HGNC:18286 | RefSeq IDs: | NM_032753 |
Entrez Gene ID: | 84839 | Ensembl Gene ID: | ENSG00000173976 |
VEGA IDs: | UniProt ID: | Q96IS3 | |
UCSC ID: | uc002lys.2 | OMIM ID: | 610362 |
Pubmed: | |||
CCDS IDs: | CCDSCCDS12112.1 |
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].
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.
Products for RAX2 gene
Catalog | Product Name | Application | Company |
GFS:E07159 | retina and anterior neural fold homeobox 2; ELISA kit | ELISA | n/a |
GFS:A07159 | retina and anterior neural fold homeobox 2; Anti | ANTIBODIES | n/a |
GFS:P07159 | retina and anterior neural fold homeobox 2; Protien | Protien | n/a |