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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SDR9C7
short chain dehydrogenase/reductase family 9C member 7
Chromosome 12 Β· 12q13.3
NCBI Gene: 121214Ensembl: ENSG00000170426.2HGNC: HGNC:29958UniProt: Q8NEX9
20PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
all-trans-retinol dehydrogenase (NAD+) activityretinol metabolic processoxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptorcytoplasmichthyosis, congenital, autosomal recessive 13lamellar ichthyosisIchthyosis-hypotrichosis syndromeinherited ichthyosis
✦AI Summary

SDR9C7 (short chain dehydrogenase/reductase family 9C member 7) is a NAD+-dependent oxidoreductase essential for epidermal barrier formation 1. Its primary function is catalyzing the dehydrogenation of linoleate 9,10-trans-epoxy-11E-13-alcohol esterified in omega-O-acylceramides to produce the corresponding 13-ketone, a reactive moiety critical for covalent binding of ceramides to proteins in the corneocyte lipid envelope 12. This enzymatic activity is necessary for forming the functional corneocyte lipid envelope, a crucial structural component of the epidermal permeability barrier 3. SDR9C7 also displays weak retinol dehydrogenase activity, converting all-trans-retinal to all-trans-retinol in the presence of NADH 4, suggesting a role in vitamin A metabolism during epidermal terminal differentiation. Loss-of-function mutations in SDR9C7 impair epidermal barrier function, as demonstrated through knockdown studies showing morphological abnormalities and increased dye penetration 5. Pathogenic SDR9C7 mutations cause autosomal recessive congenital ichthyosis (ARCI), a cornification disorder characterized by generalized skin scaling, dry scaly skin, and erythroderma 67. SDR9C7 mutations represent approximately 1% of ARCI cases and are associated with abnormal lamellar bodies on ultrastructural examination 7. The disease mechanism involves defective corneocyte lipid envelope formation due to loss of the critical 9,10-epoxy-11E-13-ketone acylceramide species.

Sources cited
1
SDR9C7 catalyzes NAD+-dependent dehydrogenation of linoleate 9,10-trans-epoxy-11E-13-alcohol to 13-ketone for ceramide-protein binding
PMID: 31671075
2
SDR9C7 is essential for corneocyte lipid envelope formation through covalent attachment of acylceramides to proteins
PMID: 32305239
3
SDR9C7 mutations impair corneocyte lipid envelope formation, resulting in defective skin barrier and ichthyosis
PMID: 36967672
4
SDR9C7 encodes an enzyme with weak retinol dehydrogenase activity and is involved in vitamin A metabolism during epidermal differentiation
PMID: 28173123
5
SDR9C7 knockdown impairs epidermal barrier function, demonstrated through morphological abnormalities and increased dye penetration
PMID: 33422619
6
SDR9C7 mutations are among ten genes identified as causes of autosomal recessive congenital ichthyosis
PMID: 33435499
7
SDR9C7-mutated ARCI patients show abnormal lamellar bodies on ultrastructural examination; SDR9C7 mutations represent ~1.4% of ARCI cases
PMID: 38588653
Disease Associationsβ“˜21
ichthyosis, congenital, autosomal recessive 13Open Targets
0.69Moderate
lamellar ichthyosisOpen Targets
0.60Moderate
Ichthyosis-hypotrichosis syndromeOpen Targets
0.55Moderate
inherited ichthyosisOpen Targets
0.48Moderate
congenital non-bullous ichthyosiform erythrodermaOpen Targets
0.38Weak
congenital reticular ichthyosiform erythrodermaOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.32Weak
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.27Weak
intellectual disability, autosomal recessive 53Open Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
ichthyosisOpen Targets
0.19Weak
vertebral joint diseaseOpen Targets
0.10Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.10Suggestive
microphthalmiaOpen Targets
0.09Suggestive
isolated microphthalmia 7Open Targets
0.09Suggestive
nanophthalmiaOpen Targets
0.09Suggestive
nanophthalmos 2Open Targets
0.09Suggestive
hemorrhageOpen Targets
0.09Suggestive
ThrombocytopeniaOpen Targets
0.08Suggestive
pernicious anemiaOpen Targets
0.08Suggestive
Ichthyosis, congenital, autosomal recessive 13UniProt
Pathogenic Variants6
NM_148897.3(SDR9C7):c.826C>T (p.Arg276Cys)Pathogenic
Lamellar ichthyosis|Ichthyosis and erythrokeratoderma
β˜…β˜…β˜†β˜†2025β†’ Residue 276
NM_148897.3(SDR9C7):c.355G>A (p.Glu119Lys)Pathogenic
Congenital ichthyosis of skin|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2025β†’ Residue 119
NM_148897.3(SDR9C7):c.658C>T (p.Arg220Ter)Pathogenic
Ichthyosis, congenital, autosomal recessive 13|Congenital ichthyosis of skin|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 220
NM_148897.3(SDR9C7):c.364dup (p.Thr122fs)Pathogenic
Ichthyosis, congenital, autosomal recessive 13|not provided|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2024β†’ Residue 122
NM_148897.3(SDR9C7):c.560+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_148897.3(SDR9C7):c.214C>T (p.Arg72Trp)Pathogenic
Ichthyosis, congenital, autosomal recessive 13
β˜†β˜†β˜†β˜†2017β†’ Residue 72
View on ClinVar β†—
Related Genes
DHRS7Shared pathway100%PNPLA1Protein interaction89%ALOX12BProtein interaction72%RLBP1Protein interaction72%LRATProtein interaction72%CYP4F22Protein interaction57%
Tissue Expression6 tissues
Ovary
100%
Liver
43%
Lung
21%
Brain
11%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SDR9C7DHRS7PNPLA1ALOX12BRLBP1LRATCYP4F22
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NEX9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.54 [0.35–0.84]
RankingsWhere SDR9C7 stands among ~20K protein-coding genes
  • #14,251of 20,598
    Most Researched20
  • #3,444of 5,498
    Most Pathogenic Variants6
  • #7,292of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedSDR9C7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Meta-Analysis of Mutations in
PMID: 33435499
Genes (Basel) Β· 2021
1.00
2
SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis.
PMID: 36967672
Anim Genet Β· 2023
0.90
3
SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation.
PMID: 31671075
J Clin Invest Β· 2020
0.80
4
SDR9C7 plays an essential role in skin barrier function by dehydrogenating acylceramide for covalent attachment to proteins.
PMID: 32305239
J Dermatol Sci Β· 2020
0.70
5
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
PMID: 38588653
Dermatology Β· 2024
0.60