Gene: [15q2/PKM] pyruvate kinase, muscle (M1; M2; PK2); pyruvate kinase, kidney (PK3; MIM:179040); thyroid hormone binding protein, cytosolic (p58; MIM:188555);
COM | [1] By in
situ hybridization, the THBP1 gene was mapped to 15q24-q25 (Popescu-1990).
[2] The sequence of the cDNA for p58/THBP1 indicated that it is homologous to a subunit of pyruvate kinase, subtype M2." |
FAG | [1] Two
different genes - PKM and PKL (liver pyruvate kinase, GEM:01q21/PKL) are supposed to code for four pyruvate
kinase isoforms (M1, M2, L, and R) via the alternative splicing. [2] The liver pyruvate kinase gene is mapped in chr 1q (GEM:01q21/PKL). Deficiency of its product is thought to cause hemolytic anemia (MIM:266200; PK1). MIM indicates also (as a secondary marker, without description) PK2 (MIM:179040), which represents one of two forms encoded by PKM gene." |
REF | LOC,LIN,CYG "Chern &:
Somat Cell Genet, 3, 553-560, 1977 LOC,LIN,CYG "Chern, Croce: CCG, 15, 299-305, 1975 LOC,LIN,CYG "Junien C &: Hum Genet, 54, 191-196, 1980 PEP,SEQ,EVO,MOP "Kahn &: BBA, 523, 58-74, 1978 COD,SEQ "Kitagawa S &: JBC, 262, 3903-3908, 1987 PEP,SEQ,EVO,MOP "Levine &: Nature, 271, 626-630, 1978 PEP,SEQ,EVO,MOP "Nakashima &: J Lab Clin Med, 90, 1012-1020, 1977 LOC "Popescu NC, Cheng SY: Somat Cell Mol Genet, 16, 593-598, 1990 LOC,LIN,CYG "Shows TB: AJHG, 24, 13A, 1972 EXP,PRO,GEN,MOL "Tsutsumi H &: Genomics, 2, N1, 86-89, 1988 LOC,LIN,CYG "van Heyningen V &: Ann Hum Genet, 38, 295-303, 1975 LOC,LIN,CYG "Westerveld A &: CCG, 14, 453-454, 1975 |
SWI | SWISSPROT: P14618; KPY2 P14786 |
KEY | glyc, cytr, horm |
CLA | coding, basic |
LOC | 15 q24-25 |
MIM | MIM: 179050 |
EZN | ENZYME: 2.7.1.40 |
Смотрите также:
