Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf30 gene product has been provisionally designated C7orf30 pending further characterization.
Function:
May function as a ribosomal silencing factor. Addition to isolated mitochondrial ribosomal subunits partially inhibits translation. Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits and the formation of functional ribosomes, thus repressing translation. May also participate in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome.
Subunit:
Associates with the mitochondrial ribosome large subunit (39S). Interacts with MRPL12 and MRPL14.
Subcellular Location:
Mitochondrion matrix. Note=Colocalizes with MRPL12 (PubMed:22238375) and/or MRPL14 (PubMed:22829778).
Similarity:
Belongs to the Iojap/RsfS family.
SWISS:
Q96EH3
Gene ID:
115416
Database links:
Entrez Gene: 115416 Human
SwissProt: Q96EH3 Human
Unigene: 87385 Human
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Sample:
Muscle (Mouse) Lysate at 40 ug
Primary: Anti-C7orf30 (SL15263R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 26 kD
Observed band size: 26 kD
Paraformaldehyde-fixed, paraffin embedded (mouse cerebellum); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (C7orf30) Polyclonal Antibody, Unconjugated (SL15263R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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