General description
The gene chimerin 1 (CHN1) is mapped to human chromosome 2q31.1. It is mainly expressed in the brain. The gene encodes two splice variants, α1 and α2.
This gene encodes GTPase-activating protein for p21-rac and a phorbol ester receptor. It plays an important role in ocular motor axon pathfinding. Heterozygous missense mutations in this gene cause Duane′s retraction syndrome 2 (DURS2). Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq)
Immunogen
CHN1 (AAH11393, 91 a.a. ~ 200 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
QTRNFRLYYDGKHFVGEKRFESIHDLVTDGLITLYIETKAAEYIAKMTINPIYEHVGYTTLNREPAYKKHMPVLKETHDERDSTGQDGVSEKRLTSLVRRATLKENEQIP
Biochem/physiol Actions
Chimerin 1 (CHN1) works as a GTPase-activating protein (GAP) for Rac1 (Ras-related C3 botulinum toxin substrate 1). The α1-chimaerin controls dendritic spine growth, branching and morphology. Mutations in this gene are associated with Duane′s retraction syndrome (DRS).
Physical form
Solution in phosphate buffered saline, pH 7.4
Legal Information
GenBank is a registered trademark of United States Department of Health and Human Services
| biological source | mouse |
| Quality Segment | 100 |
| conjugate | unconjugated |
| antibody form | purified immunoglobulin |
| antibody product type | primary antibodies |
| clone | 3F8, monoclonal |
| form | buffered aqueous solution |
| species reactivity | human |
| technique(s) | indirect ELISA: suitable,western blot: 1-5 μg/mL |
| isotype | IgG1κ |
| GenBank accession no. | BC011393 |
| UniProt accession no. | P15882 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... CHN1(1123) |
