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Rabbit Anti-FAM103A1 antibody
Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene. The FAM103A1 gene product has been provisionally designated FAM103A1 pending further characterization.
Function:
Required for efficient mRNA cap methylation. Regulates RNMT expression by a post-transcriptional stabilizing mechanism.
Subunit:
Interacts with RNMT, enhancing its mRNA binding capacity and cap methyltransferase activity.
Subcellular Location:
Nucleus.
Similarity:
Belongs to the FAM103 family.
SWISS:
Q9BTL3
Gene ID:
83128
Database links:
Entrez Gene: 83128 Human
SwissProt: Q9BTL3 Human
Unigene: 727661 Human
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