SUMF1 wt Allele

Preferred Label : SUMF1 wt Allele;

NCIt synonyms : AAPA3037; UNQ3037/PRO9852; Sulfatase Modifying Factor 1 wt Allele; UNQ3037; PSEC0152; FGE;

NCIt definition : Human SUMF1 wild-type allele is located in the vicinity of 3p26.1 and is approximately 766 kb in length. This allele, which encodes sulfatase-modifying factor 1 protein, plays a role in the positive regulation of sulfatase activity. Mutation of the gene is associated with multiple sulfatase deficiency.;

NCI Metathesaurus CUI : CL509297;

GenBank Accession Number : BC017005;

Details

Origin ID

C127892;

UMLS CUI

C4284888;

Automatic exact mappings (from CISMeF team)
- Sulfatase-modifying factor 1 [OMIM gene]
- sulfatase modifying factor 1 [ORDO Gene]
OMIM relation
- Sulfatase-modifying factor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Lipid Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Post-Translational Modification [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients