- cryptic splice site
- an unusual splice site with a sequence similar to that of the consensus splice site; it is usually unused but can become competitive with the normal site if either is mutated.
Medical dictionary. 2011.
Medical dictionary. 2011.
Cryptic splic site — cryptic splice sitesThere are four sequence elements within introns of mammalian pre mRNAs which are required for efficient splicing. These are the conserved sequence at the 5 splice junction, the invariant AG dinucleotide at the 3 splice… … Wikipedia
RNA splicing — In molecular biology and genetics, splicing is a modification of an RNA after transcription, in which introns are removed and exons are joined. This is needed for the typical eukaryotic messenger RNA before it can be used to produce a correct… … Wikipedia
Progerin — is a truncated version of lamin A protein involved in Hutchinson Gilford progeria syndrome. Progerin is most often generated by a mutation (C1824T) in the lamin A gene, LMNA. This mutation activates a cryptic splice site and gives rise to a form… … Wikipedia
OXCT1 — 3 oxoacid CoA transferase 1 PDB rendering based on 1m3e … Wikipedia
Laminopathy — Normal nuclear lamina (a and b) and mutant nuclear lamina (c and d) from a patient with HGPS, visualized by immunofluorescence note the irregular and bumpy shape of the laminopathic nuclei[1] Laminopathies are a group of rare genetic disorders… … Wikipedia
NEDD4L — Neural precursor cell expressed, developmentally down regulated 4 like PDB rendering based on 1wr3 … Wikipedia
ALG3 — Asparagine linked glycosylation 3 homolog (S. cerevisiae, alpha 1,3 mannosyltransferase), also known as ALG3, is a human gene.cite web | title = Entrez Gene: ALG3 asparagine linked glycosylation 3 homolog (S. cerevisiae, alpha 1,3… … Wikipedia
PTENP1 — Phosphatase and tensin homolog (mutated in multiple advanced cancers 1), pseudogene 1, also known as PTENP1, is a human gene.cite web | title = Entrez Gene: PTENP1 phosphatase and tensin homolog (mutated in multiple advanced cancers 1),… … Wikipedia
Progeria — A disorder characterized by premature aging. There is more than one type of progeria, and the mechanism behind these disorders is not yet known. Researchers have recently found dramatically lowered levels of antioxidant enzymes, particularly… … Medical dictionary
progerin — pro·ger·in (pro jērґin) an abnormal, truncated protein formed during processing of the precursor to lamin A in progeria (q.v.) as a result of mutation of the gene encoding lamins A and C such that a cryptic splice site is activated … Medical dictionary