Gene: [17p1/COX10] cytochrome c oxidase subunit X (heme A:farnecyltransferase) homolog of S.cerevisiae COX10; cytochrome oxidase deficiency, type ? (MIM:220110);
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COM |
An internal exon of the COX10 gene was found to be within one of the 24-kb repeat sequences that flank the Charcot-Marie-Tooth disease type 1A (GEM:17p112/PMP22) locus. This finding places the COX10 gene on Chr 17p12-p11.2 (Murakami-1997)." |
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FUN |
The COX10 gene is suggested to play an important role in the farnesylation of protoheme (a prosthetic group of the cytochrome oxidase complex), and is a candidate gene in cytochrome oxidase deficiencies (Murakami-1997)." |
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EAG |
The COX10 gene encodes a 443-amino acid protein with significant homology to the yeast and bacterial farnesyltransferases (Glerum-1994)." |
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GEN |
The gene length: 135 kb; exons: 7 (Murakami-1997). |
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REF |
COD,SEQ,EAG "Glerum DM, Tzagoloff A: PNAS, 91, 8452-8456, 1994 GEN,LOC,EXP,TIS "Murakami T &: Genomics, 42, N1, 161-164, 1997 |
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KEY |
mito |
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CLA |
coding, basic |
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LOC |
17 p1 |
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MIM |
MIM: 602125 |
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EZN |
ENZYME: 1.9.3.1 |
