Gene: [00.0/ATP5C] ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide;
|
COM |
[1] Two loci ATP5C1 (GDB:G00-137-187) and ATP5C2 (GDB:G00-217-058) are
reserved in the Genome Data Base, but the both isoforms (H-heart and
L-liver)
are produced by alternative splicing of the same gene ATP5C. The H
isoform differs from the L isoform by the absence of the last amino acid
(asp299).
[2] By somatic cell hybrid analysis, human homologs of the rat liver gamma subunit of the ATP synthase gene (ATP5C) were mapped to 2 different chromosomes, 10 and 14 (GEM:10^/ATP5CL1; GEM:14^/ATP5CL2) (Jabs-1994). It was not known if 1 of the 2 subunits is a pseudogene or if there are 2 isoforms of the subunit in the human." |
|
LIK |
GEM:10^/ATP5CL1; GEM:14^/ATP5CL2. |
|
REF |
CLO,FAG "Jabs EW &: Hum Genet, 93, 600-602, 1994 CLO,SEQ,LOC "Matsuda C &: JBC, 268, 24950-24958, 1993 |
|
KEY |
mito, mem, ion |
|
CLA |
coding, basic |
|
LOC |
RS |
|
MIM |
MIM: 108729 |
|
EZN |
ENZYME: 3.6.1.34 |
