Abstract:
:A Drosophila-related expressed sequence tag (DRES) with sequence similarity to the peanut gene has previously been localized to human chromosome 22q11. We have isolated the cDNA corresponding to this DRES and show that it is a novel member of the family of septin genes, which encode proteins with GTPase activity thought to interact during cytokinesis. The predicted protein has P-loop nucleotide binding and GTPase motifs. The gene, which we call PNUTL1, maps to the region of 22q11.2 frequently deleted in DiGeorge and velo-cardio-facial syndromes and is particularly highly expressed in the brain. The mouse homologue, Pnutl1, maps to MMU16 adding to the growing number of genes from the DiGeorge syndrome region that map to this chromosome.
journal_name
Hum Genetjournal_title
Human geneticsauthors
McKie JM,Sutherland HF,Harvey E,Kim UJ,Scambler PJdoi
10.1007/s004390050576subject
Has Abstractpub_date
1997-11-01 00:00:00pages
6-12issue
1eissn
0340-6717issn
1432-1203journal_volume
101pub_type
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