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Immunogen sequence: PGDAGKAGD QLVPDNLKET DKEKGEVGKS WDSWSDSEEE FFECLSDTEE LKGNGQESGK KGGPKEMANL RPEGRLYQHG KLTLLHNGEP LYIPVTQEPA PMTEDLLEEQ SEVLAKLGTS AEGAHLRARM QSACLLSDME SFKAANPGCS LEDFVRWYSP RDYIEEEVID EKGNVVLKGE LSARMKIPSN MWVEAWETAK PIPARRQRRL FDDTREAEKV LHYLAIQKPA DLARHLLPCV IHAAVLKVKE EESLENISSV KKIIKQIISH SSKVLHFPNP EDKKLEEIIH QITNVEALIA RARSLKAKFG TEKCEQEEEK EDLERFVSCL LEQPEVLVTG AGRGHAGRII H (502-851 aa encoded by BC146809)
RAB3GAP1, is a 981 amino acid protein that belongs to the Rab3-GAP catalytic subunit family. Rab 3 GAP p130 converts active RAB3-GTP to the inactive form RAB3-GDP, and is required for normal eye and brain development. Defects in Rab 3 GAP p130 are the cause of Warburg micro syndrome 1 (WARBM1). WARBM1 is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. The Rab 3 GAP p130 protein may participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Rab 3 GAP p130; Rab3 GAP p130; RAB3 GTPase activating protein subunit 1 (catalytic); RAB3 GTPase-activating protein 130 kDa subunit; Rab3 GTPase-activating protein catalytic subunit; Rab3-GAP; Rab3-GAP p130
Gene Aliases: 1700003B17Rik; 4732493F09Rik; AL117896; KIAA0066; P130; RAB3GAP; RAB3GAP1; RAB3GAP130; WARBM1
UniProt ID: (Human) Q15042, (Mouse) Q80UJ7
Entrez Gene ID: (Human) 22930, (Mouse) 226407
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