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.?