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