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Highest antigen sequence indentity to the following orthologs: Mouse (38%), Rat (38%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-67379. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq, Jul 2008].
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: h4F5; Protein 4F5; SMA modifier 1; Small EDRK-rich factor 1; small EDRK-rich factor 1A (telomeric); spinal muscular atrophy-related gene H4F5
基因别名: 4F5; FAM2A; FAM2B; H4F5; SERF1; SERF1A; SERF1B; SMAM1
UniProt ID: (Human) O75920
Entrez Gene ID: (Human) 8293