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The protein encoded by SNRPN is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family.
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Dog (Canine) Monoclonal SNRPN Primary Antibody for BI, IHC (f) - ABIN968085
Cifuentes-Diaz, Frugier, Tiziano, Lacène, Roblot, Joshi, Moreau, Melki: Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. in The Journal of cell biology 2001
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Human Monoclonal SNRPN Primary Antibody for ELISA, ICC - ABIN4354831
Spiró, Koh, Tay, See, Winkler: Transcriptional enhancement of Smn levels in motoneurons is crucial for proper axon morphology in zebrafish. in Scientific reports 2016
we have confirmed that SNRPN methylation increases with age, which raises further questions regarding the role of SNRPN expression during the aging process.
the cases with partial loss of methylation in KCNQ1OT1 and SNRPN present clinical features different to those associated with the corresponding imprinting syndromes
Knockdown of SNRPN was demonstrated to significantly inhibit medulloblastoma cell growth and induce G2/M phase arrest in vitro.
indicate that SmN (show STMN1 Antibodies) expression reduces the level of mature U2 snRNP (show LSM2 Antibodies), leading to alternative splicing
The methylation patterns of the promoters of MTHFR (show MTHFR Antibodies) and SNRPN are associated with changes in sperm motility and morphology, which could lead to male infertility.
Human amniotic fluid mesenchymal stem cells contain a unique epigenetic signature during in vitro cell culture. H19 (show NCKAP1 Antibodies) and KCNQ1OT1 possessed a substantial degree of hypermethylation status, and variable DNA methylation (show HELLS Antibodies) patterns of SNRPN was observed.
In the skeletal muscle of neonate pigs, both NECD (show NDN Antibodies) and SNRPN were maternally imprinted, while UBE3A (show ube3a Antibodies) was not imprinted.
genetic association studies using 1,000 white subjects from Midwestern United States: Three copy number variations (CNV) in PWCR (show NDN Antibodies) are associated with body fat mass, with a higher copy number (CN) associated with an increase of in body fat mass.
Variable methylation of the imprinted gene, SNRPN, supports a relationship between intracranial germ cell tumours and neural stem cells.
SNRPN gene is imprinted, with monoallelic expression from the paternal allele in fetal brain and heart, and in adult brain.
The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure.
SM protein N
, sm protein D
, small nuclear ribonucleoprotein-associated protein N
, tissue-specific splicing protein