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PAX6 paired box 6 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000280 Homo sapiens paired box 6 (PAX6), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001127612 Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001258462 Homo sapiens paired box 6 (PAX6), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001258463 Homo sapiens paired box 6 (PAX6), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001258464 Homo sapiens paired box 6 (PAX6), transcript variant 6, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001258465 Homo sapiens paired box 6 (PAX6), transcript variant 7, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001604 Homo sapiens paired box 6 (PAX6), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

Related Services

Gene Symbol PAX6
Entrez Gene ID 5080
Full Name paired box 6
Synonyms AN, AN2, D11S812E, MGC17209, MGDA, WAGR
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11p13

Summary This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012].
Disorder

MIM: 607108

Aniridia, 106210 (3); Peters anomaly, 604229 (3); Cataract with

mRNA Protein Product Sequence Price Select
NM_000280, 386642908 NP_000271, 4505615 paired box protein Pax-6 isoform a ORF Sequence $550.00
NM_001127612, 189083680 NP_001121084, 189083681 paired box protein Pax-6 isoform a ORF Sequence $550.00
NM_001258462, 386642910 NP_001245391, 386642911 paired box protein Pax-6 isoform b ORF Sequence $550.00
NM_001258463, 386642912 NP_001245392, 386642913 paired box protein Pax-6 isoform b ORF Sequence $550.00
NM_001258464, 386642914 NP_001245393, 386642915 paired box protein Pax-6 isoform a ORF Sequence $550.00
NM_001258465, 386642916 NP_001245394, 386642917 paired box protein Pax-6 isoform a ORF Sequence $550.00
NM_001604, 386642909 NP_001595, 4580424 paired box protein Pax-6 isoform b ORF Sequence $550.00
KEGG
hsa04950Maturity onset diabetes of the young
Pathway Interaction Database
cdc42_pathwayCDC42 signaling events
Reactome
REACT_18325Regulation of Insulin Secretion
REACT_1505Integration of energy metabolism
REACT_24019Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1)
REACT_111045Developmental Biology
REACT_23974Incretin Synthesis, Secretion, and Inactivation
REACT_13819Regulation of gene expression in beta cells
REACT_23824Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
REACT_13698Regulation of beta-cell development
REACT_111217Metabolism
Homo sapiens (human)PAX6NP_001595.2
Macaca mulatta (Rhesus monkey)PAX6XP_001084865.2
Bos taurus (cattle)PAX6NP_001035735.1
Mus musculus (house mouse)Pax6NP_038655.1
Rattus norvegicus (Norway rat)Pax6NP_037133.1
Gallus gallus (chicken)PAX6NP_990397.1
Danio rerio (zebrafish)pax6aNP_571379.1
Danio rerio (zebrafish)pax6bNP_571716.1
Drosophila melanogaster (fruit fly)toyNP_524638.3
Caenorhabditis elegansvab-3NP_001024570.1
GeneCards PAX6
PDB 2CUE, 6PAX
UniProt P26367, F1T0F8, Q66SS1
MIM 607108
Ensembl ENSG00000007372
HGNC 8620
HPRD 06167

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
paired box protein Pax-6
Names
paired box protein Pax-6
oculorhombin
aniridia type II protein
paired box homeotic gene-6

Interactant



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