SMIM1 Antibody, FITC conjugated

1. rs1175550G and to a lesser extent rs143702418C independently increase SMIM1 and Vel antigen expression. PMID: 28084402
2. Among the 448 samples analysed, 10 (2.23%) harboured the 17 bp deletion of the gene SMIM1, and all were heterozygote for the SMIM1*64_80 del allele. PMID: 27328373
3. Alleles that initially entered the population have been maintained within the population. The c.64_80del null allele of SMIM1 is one such allele, thus having implications for transfusion medicine and child or maternal health. PMID: 26666208
4. SMIM1 carries the Vel antigen as a type II membrane protein with a predicted C-terminal extracellular domain of only 3-12 amino acids PMID: 26452714
5. Weak Vel expression levels are caused by multiple genetic factors in SMIM1 and probably also by other genetic or environmental factors. PMID: 25647324
6. A cohort of 70 Vel- individuals was found to be uniformly homozygous for a 17 nucleotide deletion in the coding sequence of SMIM1. PMID: 23505126
7. Loss of SMIM1 is associated with reduction in red blood cell formation. PMID: 23563606
8. Loss of SMIM1 is associated with reduction in red blood cell formation. PMID: 23563608

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HGNC: 44204

OMIM: 615242

KEGG: hsa:388588

STRING: 9606.ENSP00000457386

UniGene: Hs.22047