Gene: [01q4/CHML] geranylgeranyltransferase, component A2; choroideremia-like protein;
COM | von Bokhoven-1994 assigned the CHML gene to Chr 1q42-t and found no mutations in 10 Dutch and 9 Danish USH2 patients. These results suggest that CHML gene is not involved in pathogenesis of Usher syndrome 2 (GEM:01q41/USH2A)." |
REL | GEM:0Xq21/CHM. |
REF | LOC,SEQ,EVO "Cremers
FPM &: Hum Mol Genet, 1, N2, 71-75, 1992 LOC,MUT "von Bokhoven H &: Genomics, 19, N2, 385-387, 1994 |
SWI | SWISSPROT: P26374 |
KEY | neu, eye |
CLA | coding, basic |
LOC | 01 q42-t |
MIM | MIM: 118825 |
EZN | ENZYME: 2.5.1.? |
