LP268265-8
SUMF1 gene
Active
Description
The SUMF1 gene is located on chromosome 3p26.1 and encodes formylglycine-generating enzyme (FGE). FGE converts cysteine molecules in sulfatase enzymes to C-alpha-formylglycine. Mutations in the SUMF1 gene cause the production of unstable FGE or FGE with reduced activity and result in multiple sulfatase deficiency, a condition in which the many different sulfatase enzymes that FGE usually modifies are affected. This results in an accumulation of sulfatase substrates in neurological, skeletal, and skin tissue. This disorder is usually diagosed at birth or during early childhood, is progressive, and affected individuals often do not survive more than 2 to 3 years after the onset of symptoms. [MedlinePlus Gene: SUMF1] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- SUMF1 gene
- Part Display Name
- SUMF1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-08-03
- Construct for LOINC Short Name
- SUMF1
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen SUMF1 |
| it-IT | Italian (Italy) | SUMF1, gene |
| zh-CN | Chinese (China) | SUMF1 基因 Synonyms: 硫酸酯酶修饰因子 1 基因; |
| fr-FR | French (France) | SUMF1 gène |
| nl-NL | Dutch (Netherlands) | SUMF1-gen |
| pl-PL | Polish (Poland) | SUMF1 gen Synonyms: Gen SUMF1 |
| el-GR | Greek (Greece) | Γονίδιο SUMF1 Synonyms: Γονίδιο SUMF1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://