Gene: [09q341/AK1] adenylate kinase 1; hemolytic anemia due to adenylate kinase deficiency;
HIS | Zuffardi-1989 disproved the data (Cook-1978 and Allderdice-1986) on the regional location of AK1 in segment q34: in the case described by Zuffardi-1989, there was the deletion of the region 9q32-qt, but the erythrocytic adenylate kinase activity, as well as orosomucoid 1 (see GEM:09q32/ORM1) were completely retained. Therefore, both coding genes must not be located more distal than 9q32. Bearing in mind the data (Mattei-1980) on the location of AK1 in the region 9q32-qt, one might suppose that both gene are located in 9q32 segment." |
FUN | Systematic name: ATP:AMP phosphotransferase. Catalyzes reaction: ATP + AMP = ADP + GDP." |
FAG | Three AK genes and an AK3 pseudogene have been identified: GEM:09q341/AK1; GEM:01p34/AK2; GEM:09p/AK3; GEM:17q112/AK3P1." |
MAP | Loci:
GEM:09q32/ORM1; GEM:09q32/ORM2; GEM:09q34/ABO. [1] See GEM:09q32/ORM1." |
REF | LIN,HIS,CYG
"Allderdice PW &: AJHG, 39, 612-617, 1986a LOC,REL "Allderdice PW &: AJHG, 39, 612-617, 1986b LIN,HIS,CYG "Cook PJ &: Ann Hum Genet, 41, 365-377, 1978 LIN,HIS,CYG "Ferguson-Smith MA &: Hum Genet, 34, N1, 35-43, 1976 LOC,REL "Harris RM &: CCG, 58, 1940, 1991 LOC,REL "Henske EP &: Genomics, 13, 841-844, 1992 LOC,REL "Leversha MA &: CCG, 58, 2038, 1991 COD,SEQ,EXP "Matsuura S &: JBC, 264, 10148-10155, 1989 LIN,HIS,CYG "Mattei JF &: Clin Genet, 17, N2, 129-136, 1980 LOC,REL "Povey S &: Ann Hum Genet, 58, 177-250, 1994 SEQ,PEP "von Zabern I &: Eur J Biochem, 68, 281-290, 1976 LOC,LIN,CYG "Zuffardi O &: Hum Genet, 82, 17-19, 1989 |
SWI | SWISSPROT: P00568 |
KEY | nucm, hem |
CLA | coding, basic |
LOC | 09 q34.1 |
MIM | MIM: 103000 |
EZN | ENZYME: 2.7.4.3 |
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