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FIGURE: 1 / 2
Sequence of this protein is as follows: MAPIGLKAVV GEKIMHDVIK KVKKKGEWKV LVVDQLSMRM LSSCCKMTDI MTEGITIVED INKRREPLPS LEAVYLITPS EKSVHSLISD FKDPPTAKYR AAHVFFTDSC PDALFNELVK SRAAKVIKTL TEINIAFLPY ESQVYSLDSA DSFQSFYSPH KAQMKNPILE RLAEQIATLC ATLKEYPAVR YRGEYKDNAL LAQLIQDKLD AYKADDPTMG EGPDKARSQL LILDRGFDPS SPVLHELTFQ AMSYDLLPIE NDVYKYETSG IGEARVKEVL LDEDDDLWIA LRHKHIAEVS QEVTRSLKDF SSSKRMNTGE KTTMRDLSQM LKKMPQYQKE LSKYSTHLHL AEDCMKHYQG TVDKLCRVEQ DLAMGTDAEG EKIKDPMRAI VPILLDANVS TYDKIRIILL YIFLKNGITE ENLNKLIQHA QIPPEDSEII TNMAHLGVPI VTDSTLRRRS KPERKERISE QTYQLSRWTP IIKDIMEDTI EDKLDTKHYP YISTRSSASF STTAVSARYG HWHKNKAPGE YRSGPRLIIF ILGGVSLNEM RCAYEVTQAN GKWEVLIGST HILTPTKFLM DLRHPDFRES SRVSFEDQAP TME
This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described.
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Protein Aliases: EIEE4; FLJ37475; hUNC18; MGC146482; minisatellite 10g detected by probe MMS10; munc-18c; MUNC18-1; N-Sec1; neuronal SEC1; p67; Protein unc-18 homolog 1; Protein unc-18 homolog A; rop; RP11-56D16.3; Syntaxin-binding protein 1; UNC-18 homolog; unc-18-1; Unc-18A; Unc18-1
Gene Aliases: AI317162; AI326233; MMS10-G; Ms10g; Munc-18a; MUNC18-1; N-sec1; NSEC1; P67; Rb-sec1; RBSEC1; STXBP1; Sxtbp1; UNC18; Unc18-1; UNC18A; Unc18h
UniProt ID: (Human) P61764, (Mouse) O08599
Entrez Gene ID: (Human) 6812, (Mouse) 20910
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