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Table 1 Genes involved in the retinoic acid synthesis, degradation, and signaling in humans

From: Genetics and functions of the retinoic acid pathway, with special emphasis on the eye

Gene Diseases linked to mutations in gene OMIM reference number Probability loss-of-function (pLOF) allele counts Number of individuals homozygote for a pLOF allele pLI
ADH1 Fetal alcohol syndrome (ADH1A) [86]; increased alcohol sensitivity (ADH1B) [87]; ethanol-induced; cutaneous erythema [88] 103700 and 103720 and 103730 131 1 0
ADH7   600086 106 1 0
ALDH1A1 Fatty liver [89], alcohol flushing [90] 100640 6 0 0.95
ALDH1A2   603687 20 0 0.36
ALDH1A3 Bilateral severe microphthalmia, anophthalmia [79] [80] 600463 53 0 0.14
ALDH1B1   100670 > 3000 71 0
ALDH8A1   606467 49 0 0
CYP1B1 Primary congenital glaucoma [91, 92]; Juvenile/Adult POAG [93]; Peters Anomaly [94] 601771 235 0 0
CYP26A1 Decreased metabolism of ATRA (cell culture) [95] 602239 45 0 0
CYP26B1 Radiohumeral fusions and other skeletal and craniofacial anomalies [96] 605207 90 0 0.98
CYP26C1 Focal facial dermal dysplasia [97] 608428 663 1 0
CRABP1 Upregulation of CRABP1 contributes to retinoid resistance in leukemia [98] 180230 10 0 0.01
CRABP2   180231 73 0 0.00
FABP5 Increased in psoriatic skin lesions [99] 605168 13 0 0.05
RARA ~ Acute promyelocytic leukemia (APL) during gain of function/translocation [100] 180240 75 2 0.96
RARB Premalignant oral lesions, microphthalmia, diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities [76, 82] 180220 11 0 1.00
RARG ~ APL during gain of function/translocation [101] 180190 48 0 0.99
RBP4 Micropthalmia, anophthalmia, coloboma (MAC) [73, 74], night blindness and retinal dystrophy [102] 180250 8 0 0.52
RDH5 Fundus albipunctatus [103, 104] 601617 109 0 0
RDH10   607599 2 0 0.99
RXRA   180245 0 0 1.00
RXRB   180246 20 0 1.00
RXRG   180247 6 0 0.42
STRA6 Syndromal and non-syndromal MAC [75,76,77,78] 610745 265 4 0