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

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