Anti-AHI1 antibody produced in rabbit, purified immunoglobulin, buffered aqueous solution

Not available outside of the UK & Ireland.

Biochem/physiol Actions

The AHI1 (Abelson helper integration site 1) protein is responsible for the cerebellar and cortical structure growth during embryonic development. Mutation in AHI1 (Abelson helper integration site 1) might result in schizophrenia, a mental disorder that is highly heritable. AHI1 variants cause oculomotor apraxia, leading to Joubert syndrome-related disorders. The encoded protein is associated with canonical Wnt signaling.

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General description

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq)

Immunogen

AHI1 (AAH94800.1, 1 a.a. ~ 609 a.a) full-length human protein.SequenceMPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREETDLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFMISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVPDCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQENEDVFVLISPTMEEY

Physical form

Solution in phosphate buffered saline, pH 7.4