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
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- UPC:
- 51311609
- Condition:
- New
- Availability:
- 3-5 Days
- Weight:
- 1.00 Ounces
- HazmatClass:
- No
- MPN:
- WH0001123M1-100UG
- Temperature Control Device:
- Yes
