Table 1 of Dash, Mol Vis 2006; 12:499-505.


Table 1. List of positional candidate genes in keratoconus with cataract locus screened for mutation

Gene name and corresponding OMIM (wherever possible) is given in the disease linked region of keratoconus with cataract on chromosome 15q.

     Gene                           Full name of the gene                       OMIM
--------------   -----------------------------------------------------------   ------

MORF4L1(MRG15)   Mortality factor 4 like 1                                     607303

KIAA1055         Transmembrane protein 2-like gene

ETFA             Electron-transfer-flavoprotein, alpha polypeptide (glutaric   608053
                 aciduria II)

AWP1             Protein associated with PRK1

REC14            Recombination protein REC14

KIAA1199         KIAA1199                                                      608366

RCN2             Reticulocalbin 2, EF-hand calcium binding domain              602584

FAH              Fumarylacetoacetate hydrolase (fumarylacetoacetase)           276700

IDH3A            Isocitrate dehydrogenase 3 (NAD+) alpha                       601149

MTHFS            5,10-methenyltetrahydrofolate synthetase                      604197
                 (5-formyltetrahydrofolate cycloligase)

ADAMTS7          A disintegrin-like and metalloprotease (reprolysin type)      605009
                 with thrombospondin type 1 motif, 7

MAN2C1           Mannosidase, alpha, class 2C, member 1                        154580

PTPN9            Protein tyrosine phosphatase, nonreceptor type 9              600768

KIAA1024         KIAA1024 protein

ARNT2            Aryl-hydrocarbon receptor nuclear translocator 2              606036

BCL2A1           BCL2-related protein A1                                       601056

ISL2             ISL2 transcription factor, LIM/homeodomain, (islet-2)

C15ORF22(P24B)   Chromosome 15 open reading frame 22

DNAJA4           DnaJ (Hsp40) homolog, subfamily A, member 4

FLJ14594         Leucine rich repeat neuronal 6A

CIB2 (KIP2)      Calcium and integrin binding family member 2                  605564

C15ORF5          Chromosome 15 open reading frame 5

PSMA4            proteasome (prosome, macropain) subunit, alpha type, 4

Dash, Mol Vis 2006; 12:499-505 <http://www.molvis.org/molvis/v12/a58/>
©2006 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535