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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