Gene: [19q133/CORD2] cone-rod homeo box-containing gene; cone-rod dystrophy 2 (autosomal dominant) (MIM:120970); amaurosis congenita of Leber III (LCA3; congenital retinal blindness); [CRX LCA3 ]
|
COM |
Using a combination of in situ hybridization, somatic cell hybrid and radiation hybrid mapping, and yeast artificial chromosome contig analysis, Freund-1997 mapped the CRX gene to Chr 19q13.3 in the interval between markers D19S219 and D19S246." |
|
MOP |
To identify retinal homeo box-containing genes, Freund-1997 screened a human retina cDNA library at low stringency with a fragment from the human CHX10 (GEM:14q243/CHX10) cDNA. One of the isolated cDNAs encoded a novel gene, which the authors termed CRX for cone-rod homeo box-containing gene. CRX encodes a 299-amino acid protein with a predicted mass of 32 kD that is most similar to the human OTX1 (GEM:02p13/OTX1) and OTX2 (GEM:14q2/OTX2) homeodomain proteins. The CRX homeodomain is located near the amino terminus at residues 39 to 99 and belongs to the prd class. Additional domains of the CRX protein include the WSP motif and the OTX tail. The CRX gene was expressed as an abundant 4.5-kb transcript in retina but not in any other of 10 tissues or cells examined." |
|
REF |
PAT "Evans K &: Arch Ophthal, 113, N2, 195-201, 1995 PAT,LIN "Evans K &: Nature Genet, 6, 210-213, 1994 CLO,SEQ,MUT,PAT "Freund CL &: Nature Genet, 18, N4, 311-312, 1998 SEQ,LOC,PAT,MUT "Freund CL &: Cell, 91, N4, 543-553, 1997 PAT,LIN,LOC "Gregory CY &: AJHG, 55, 1061-1063, 1994 |
|
KEY |
ont, eye, neu |
|
CLA |
coding, basic |
|
LOC |
19 q13.3 |
|
MIM |
MIM: 602225 |
|
SYN |
CRX LCA3 |
