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SHANK3 gene
Pathology:
1) chromosomal translocation t(12;22)(q24.1;q13.3) involving SHANK3 & DIP13B associated with ??
2) chromosomal aberration involving SHANK3 is a cause of chromosome 22q13.3 deletion syndrome
Related
Abl interactor 1; Abelson interactor 1; Abi-1; Abl-binding protein 4; AblBP4; eps8 SH3 domain-binding protein; eps8-binding protein; Nap1-binding protein; Nap1BP; spectrin SH3 domain-binding protein 1; e3B1 (ABI1, SSH3BP1)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: Abl interactor 1
LOCUS: human chromosome-12 Q24.1
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 606230
References
UniProt :accession Q8NEU8