SDR9C7
Short-chain dehydrogenase/reductase family 9C member 7
Gene Information Card
| Symbol | SDR9C7 |
|---|---|
| Full Name | Short-chain dehydrogenase/reductase family 9C member 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 121214 ncbi.nlm.nih.gov/gene/121214 |
| Ensembl ID | ENSG00000135447 |
| UniProt ID | Q8NEX6 |
| OMIM ID | 617574 |
| HGNC ID | 26959 |
| Aliases | RDHS, SDR-O, SDR-O-7 |
Description
SDR9C7 encodes a member of the short-chain dehydrogenase/reductase (SDR) superfamily. The enzyme is involved in retinol metabolism, specifically the oxidation of all-trans-retinol to all-trans-retinal, and plays a role in epidermal differentiation and skin barrier formation. Mutations in SDR9C7 are associated with autosomal recessive congenital ichthyosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive congenital ichthyosis (ARCI) | Loss-of-function mutations impair retinol metabolism, disrupting epidermal differentiation and barrier function. | ClinVar, OMIM #617574 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.3 | Low |
| Cervix | 6.1 | Low |
| Vagina | 5.4 | Low |
| Breast | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.2 | High expression |
| NHEK (normal human epidermal keratinocytes) | 18.7 | High expression |
| A431 (epidermoid carcinoma) | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function |
| c.266G>A (p.Arg89His) | Missense | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing retinol oxidation and skin barrier integrity.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not described for SDR9C7.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinol metabolism (Reactome: R-HSA-975634)
• Metabolism of vitamins and cofactors (Reactome: R-HSA-196854)
Protein Summary
SDR9C7 is a 317-amino acid protein localized to the endoplasmic reticulum. It functions as a retinol dehydrogenase, catalyzing the conversion of all-trans-retinol to all-trans-retinal, a key step in retinoid signaling essential for epidermal differentiation. The protein contains a conserved NAD(P)-binding domain characteristic of the SDR family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SDR9C7 Knockout HEK293 Cell Line | EDJ-KQ7880 | Human | 121214 | Details Get a Quote |
| SDR9C7 Knockout HeLa Cell Line | EDJ-KQ58077 | Human | 121214 | Details Get a Quote |
| SDR9C7 Knockout A-549 Cell Line | EDJ-KQ66564 | Human | 121214 | Details Get a Quote |
| SDR9C7 Knockout HCT 116 Cell Line | EDJ-KQ74981 | Human | 121214 | Details Get a Quote |
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