功能： alternative products:At least 5 isoforms, 1, 2, 3, 4 and 5, are produced,disease:Defects in AMN are a cause of recessive hereditary megaloblastic anemia 1 (MGA1) [MIM:261100]; also referred to as MGA1 Norwegian type or Imerslund-Grasbeck syndrome (I-GS). MGA1 is due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected.,function:Necessary for efficient absorption of vitamin B12. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm.,miscellaneous:The mutations described in PubMed:12590260 all affect the N-terminus of the protein; shorter isoforms produced from alternative transcription start sites might still fulfill a role in embryogenesis. This might explain the discrepancy with the embryonic lethality of null mutants in mice.,similarity:Contains 1 VWFC domain.,subunit:Interacts with CUBN/cubilin.,tissue specificity:Long isoforms are highly expressed in small intestine, colon and kidney (renal proximal tubule epithelial cells). Shorter isoforms are detected at lower levels in testis, thymus and peripheral blood leukocytes.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform 1]: Apical cell membrane ; Single-pass type I membrane protein . Cell membrane ; Single-pass type I membrane protein . Endosome membrane . Membrane, coated pit .; [Soluble protein amnionless]: Secreted .
组织表达： Detected in proximal tubules in the kidney cortex (at protein level) (PubMed:14576052, PubMed:29402915). Long isoforms are highly expressed in small intestine, colon and kidney (renal proximal tubule epithelial cells). Shorter isoforms are detected at lower levels in testis, thymus and peripheral blood leukocytes.
功能： alternative products:At least 5 isoforms, 1, 2, 3, 4 and 5, are produced,disease:Defects in AMN are a cause of recessive hereditary megaloblastic anemia 1 (MGA1) [MIM:261100]; also referred to as MGA1 Norwegian type or Imerslund-Grasbeck syndrome (I-GS). MGA1 is due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected.,function:Necessary for efficient absorption of vitamin B12. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm.,miscellaneous:The mutations described in PubMed:12590260 all affect the N-terminus of the protein; shorter isoforms produced from alternative transcription start sites might still fulfill a role in embryogenesis. This might explain the discrepancy with the embryonic lethality of null mutants in mice.,similarity:Contains 1 VWFC domain.,subunit:Interacts with CUBN/cubilin.,tissue specificity:Long isoforms are highly expressed in small intestine, colon and kidney (renal proximal tubule epithelial cells). Shorter isoforms are detected at lower levels in testis, thymus and peripheral blood leukocytes.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform 1]: Apical cell membrane ; Single-pass type I membrane protein . Cell membrane ; Single-pass type I membrane protein . Endosome membrane . Membrane, coated pit .; [Soluble protein amnionless]: Secreted .
组织表达： Detected in proximal tubules in the kidney cortex (at protein level) (PubMed:14576052, PubMed:29402915). Long isoforms are highly expressed in small intestine, colon and kidney (renal proximal tubule epithelial cells). Shorter isoforms are detected at lower levels in testis, thymus and peripheral blood leukocytes.
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