SERPINB7 Chromosome 18
Serpin family B member 7
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What This Gene Does
This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
18q21.33
Ensembl
ENSG00000166396
Associated Conditions (5)
Inborn genetic diseases
SERPINB7-related disorder
Palmoplantar keratoderma
Nagashima type
Palmoplantar keratodermas
Key Variants
RS372450614
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1049876333
Likely pathogenic
SERPINB7-related disorder, SERPINB7-related disorder
Health Risk
RS142859678
Pathogenic
Palmoplantar keratoderma, Nagashima type, SERPINB7-related disorder
Health Risk
RS199555021
Pathogenic
Palmoplantar keratoderma, Nagashima type, Palmoplantar keratoderma
Health Risk
RS534014297
Pathogenic
Palmoplantar keratoderma, Nagashima type, Palmoplantar keratoderma
Health Risk
RS577442939
Pathogenic
Palmoplantar keratoderma, Nagashima type, Palmoplantar keratoderma
Health Risk
RS672601344
Pathogenic
Palmoplantar keratoderma, Nagashima type, Palmoplantar keratoderma
Health Risk
RS797044479
Pathogenic
Palmoplantar keratoderma, Nagashima type, Palmoplantar keratoderma
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS372450614 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1049876333 | Health Risk | Likely pathogenic | SERPINB7-related disorder, SERPINB7-related disorder |
| RS142859678 | Health Risk | Pathogenic | Palmoplantar keratoderma, Nagashima type, SERPINB7-related disorder |
| RS199555021 | Health Risk | Pathogenic | Palmoplantar keratoderma, Nagashima type, Palmoplantar keratoderma |
| RS534014297 | Health Risk | Pathogenic | Palmoplantar keratoderma, Nagashima type, Palmoplantar keratoderma |
| RS577442939 | Health Risk | Pathogenic | Palmoplantar keratoderma, Nagashima type, Palmoplantar keratoderma |
| RS672601344 | Health Risk | Pathogenic | Palmoplantar keratoderma, Nagashima type, Palmoplantar keratoderma |
| RS797044479 | Health Risk | Pathogenic | Palmoplantar keratoderma, Nagashima type, Palmoplantar keratoderma |