TMEM132E gene

17q12 Pathology: - TMEM132E gene is identified in a region of chromosome 17 involved in a heterozygous deletion of approximately 4.7 Mb; this deletion, involving the NF1 gene & contiguous genes lying in its flanking regions, is observed in one patient with NF1 & 17q11.2 microdeletion syndrome (NF1 microdeletion syndrome)

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: transmembrane protein 132E LOCUS: human chromosome-17 Q11.2 MOTIF: transcription factor binding site transcriptional start site exon intron transcriptional termination site

Database Correlations

OMIM 162200 LOCUS-LINK correlations

References

OMIM :accession 162200