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progranulin gene

Pathology: - heterozygous mutation associated with frontotemporal dementia

Related

frontotemporal dementia 3 (FTD3, chromosome 3-linked FTD) progranulin

General

unclassified gene

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: progranulin LOCUS: human chromosome-17 Q21 MOTIF: transcription factor binding site transcriptional start site exon intron transcriptional termination site

Database Correlations

OMIM 138945 MORBIDMAP 138945

References

  1. OMIM :accession 138945
  2. Baker M et al, Mutations in progranulin cause tau-negative frontotemporal dementa linked to chromosome 17. Nature 2006, 442:916 PMID: 16862116 - Crus M et al, Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 Nature 2006, 442:920 PMID: 16862115