Gene: [22q112/PNUTL1] peanut-like 1 (Drosophila homolog; GTPase-like?); cell division cycle-related; [CDCREL ]
|
COM |
[1] The panhandle variant PCR identified a region of 22q11.2 involved in
both
leukemia and a constitutional disorder (Megonigal-1998). The sequence
from the region was identical to the human CDCrel/PNUTL1 which was
identified
by McKie-1997 and Zieger-1997.
[2] PNUTL1 is a member of the septin gene family, which encodes proteins with GTPase activity thought to interact during cytokinesis (McKie-1997)." |
|
MAF |
The PNUTL1 and GP1BB (GEM:22q112/GP1BB) genes are encoded on the same DNA strand, overlapping with the same transcriptional orientation (McKie-1997)." |
|
EXP |
Reverse transcriptase-PCR amplified an in-frame fusion of PNUTL1/CDCrel exon 3 to MLL exon 7 (GEM:11q23/MLL), indicating that a chimeric mRNA had been transcribed (Megonigal-1998)." |
|
REF |
COD,SEQ,MAP,LOC,EXP "McKie JM &: Hum Genet, 101, 6-12, 1997 ABR,EXP,ASS,PAT "Megonigal MD &: PNAS, 95, 6413-6418, 1998 CLO,LOC "Zieger B &: J Clin Invest, 99, N3, 520-525, 1997 |
|
KEY |
onc |
|
CLA |
coding, basic |
|
LOC |
22 q11.2 |
|
MIM |
MIM: 602724 |
|
SYN |
CDCREL |
