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Proteintech
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Immunogen sequence: VTEIRQYFY RNMTAQNYTY AIRSRLTHVP QGHDGELLCH RIEQEYQAGP LELNREAVLR TSTNLNSQQV IYSDNNGYQM QRRPYVSYVN NSIARNYYPM VQSAFMEDGK SRLVLLSERA HGISSQGNGQ VEVMLHRRLW NNFDWDLGYN LTLNDTSVVH PVLWLLLGSW SLTTALRQRS ALALQHRPVV LFGDLAGTAP KLPGPQQQEA VTLPPNLHLQ ILSIPGWRYS SNHTEHSQNL RKGHRGEAQA DLRRVLLRLY HLYEVGEDPV LSQPVTVNLE AVLQALGSVV AVEERSLTGT WDLSMLHRWS WRTGPGRHRG DTTSPSRPPG GPIITVHPKE IRTFFIHFQQ Q (660-1009 aa encoded by BC033307)
The MAN2B2 (Mannosidase Alpha Class 2B Member 2) gene encodes an enzyme that is involved in the processing and modification of glycoproteins by hydrolyzing alpha-mannosidic linkages. Located on chromosome 4, the MAN2B2 protein is crucial for proper lysosomal function and is part of the glycosyl hydrolase family. Pathogenic variants in the MAN2B2 gene have been linked to a rare congenital disorder of glycosylation (CDG), known as MAN2B2-CDG, characterized by immune deficiency, developmental delay, stroke, and dysmorphic facial features. These mutations lead to an altered mannosylation profile, impacting glycoprotein processing and cellular functions. Studies have shown that reintroducing wild-type MAN2B2 can restore the normal mannosylation profile in patient cells, highlighting its therapeutic potential. Furthermore, recent research has identified circular RNA from this gene (circMAN2B2) that is implicated in the proliferation of hepatocellular carcinoma cells, suggesting a role in cancer biology.
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: 135 kD alpha-D-mannosidase; 135 kDa alpha-D-mannosidase; Alpha-1,6-mannosidase; core-specific lysosomal alpha-1,6-Mannosidase; Epididymis-specific alpha-mannosidase; HMG17L3; mannosidase 2, alpha B2; Mannosidase alpha class 2B member 2; mannosidase, alpha, class 2B, member 2; NHC
基因别名: Ab2-450; KIAA0935; MAN2B2; mKIAA0935
UniProt ID: (Human) Q9Y2E5, (Mouse) O54782
Entrez Gene ID: (Human) 23324, (Mouse) 17160, (Rat) 360955