Gene information for LMAN1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
| Entrez gene ID | 3998 |
| Official gene symbol | LMAN1 |
| Full name | lectin, mannose-binding, 1 |
| Aliases | ,ERGIC-53,ERGIC53,F5F8D,FMFD1,MCFD1,MR60,gp58, |
| Gene summary | 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. [provided by RefSeq] |
| Location | Chromosome: 18 Locus: |
| Gene position | 57026508 - 56995055 Map Viewer |
| OMIM ID | 601567 |
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