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Proteintech
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Immunogen sequence: GDPAVALPH RRFEYKYSFK GPHLVQSDGT VPFWAHAGNA IPSSDQIRVA PSLKSQRGSV WTKTKAAFEN WEVEVTFRVT GRGRIGADGL AIWYAENQGL EGPVFGSADL WNGVGIFFDS FDNDGKKNNP AIVIIGNNGQ IHYDHQNDGA SQALASCQRD FRNKPYPVRA KITYYQNTLT VMINNGFTPD KNDYEFCAKV ENMIIPAQGH FGISAATGGL ADDHDVLSFL TFQLTEPGKE PPTPDKEISE KEKEKYQEEF EHFQQELDKK KEEFQKGHPD LQGQPAEEIF ESVGDRELRQ VFEGQNRIHL EIKQLNRQLD MILDEQRRYV SSLTEEISKR GAGMPGQHGQ ITQQELDTVV KTQHEILR (35-401 aa encoded by BC032330 )
The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: endoplasmic reticulum-golgi intermediate compartment protein 53; ER-Golgi intermediate compartment 53 kDa protein; Gp58; Intracellular mannose-specific lectin MR60; Lectin mannose-binding 1; lectin, mannose-binding, 1; p58; Protein ERGIC-53
基因别名: 2610020P13Rik; AI326273; AU043785; C730041J05; ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58; LMAN1; MCFD1; MR60; P58
UniProt ID: (Human) P49257, (Mouse) Q9D0F3, (Rat) Q62902
Entrez Gene ID: (Human) 3998, (Mouse) 70361, (Rat) 116666