Gene: [01p31/PGM1] phosphoglucomutase 1;
|
COM |
[1] Herbich-1985 localized the genes PGM1 and FY (Duffy isoantigens) in
1p31. On the other hand, the linkage data on various
markers of chromosome 1p (including the anonymous DNA fragment as a
molecular genetic marker) have been revised by Pakstis-1989, and it
has been shown that the shortest region of overlapping (SRO) for PGM1
is limited by 1p31 or is even more distal (i.e., located closer to the
telomere). The report (Kidd-1990) on the linkage with the
ACADM-specific unique molecular genetic marker also confirms that the
location close to p31 is more probable.
[2] Before 1984, the enzyme code was EC:2.7.5.1." |
|
FAG |
Four PGM isoforms have been described; for three of them, the genes have been mapped: PGM1 in chr 1p (this gene), PGM2 in chr 4 (GEM:04^/PGM2) and PGM3 in 6q (GEM:06q12/PGM3). The PGM4 activity (the gene is not mapped yet) is found only in lactating cells of the mammary glands and in breast milk; the other three are expressed predominantly in red blood cells. Recently the PGM5 gene is mapped: GEM:09^/PGM5." |
|
LIN |
Loci: GEM:01p3/RHCE; GEM:01p3/ERVPL1.
[1] See GEM:01p3/ERVPL1." |
|
FUN |
[1] Systematic name: alpha-D-glucose 1,6-phosphomutase.
[2] The catalyzed reaction: alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate. [3] The maximum activity is only obtained in the presence of alpha-D-glucose 1,6-bisphosphate. This bisphosphate is an intermediate in the reaction, being formed by transfer of a phosphate residue from the enzyme to the substrate, but the dissociation of bisphosphate from the enzyme complex is much slower than the overall isomerization. The enzyme catalyses also the slower interconversion between 1-phosphate and 6-phosphate isomers of many other alpha-D-hexoses, and the interconversion between alpha-D-ribose 1-phosphate and 5-phosphate." |
|
REF |
PHE,FOG "Dykes &: AJHG, 37, 1225-1231, 1985 LOC,LIN,MAP "Francke U, George: CCG, 22, 384-388, 1978 LOC,LIN,MAP "Herbich J &: Hum Genet, 70, 178-180, 1985 COM,POL,LIN "Kidd JR &: Genomics, 6, N1, 89-93, 1990 LOC,LIN,MAP "Kidd KK &: Hum Hered, 38, 22-26, 1988 LOC,LIN,MAP "Pakstis &: CCG, 51, (HGM10), 1056, 1989 |
|
KEY |
carb, glyc |
|
CLA |
coding, basic |
|
LOC |
01 p31 |
|
MIM |
MIM: 171900 |
|
EZN |
ENZYME: 5.4.2.2 |
