LEPR wt Allele

Preferred Label : LEPR wt Allele;

NCIt synonyms : DB; OBR; Leptin Receptor wt Allele; LEP-R; OB-R; CD295; LEPRD;

NCIt definition : Human LEPR wild-type allele is located within 1p31 and is approximately 212 kb in length. This allele, which encodes leptin receptor protein, plays a role in the regulation of adipose-tissue mass through hypothalamic effects on satiety and energy expenditure. The allele is also involved in the regulation of lipid metabolism through hypothalamic effects, angiogenesis, lymphopoiesis, and possibly reproduction. Dysfunction of the gene is associated with diabetes and obesity.;

GenBank Accession Number : NM_002303;

Details

Origin ID

C51373;

UMLS CUI

C1706234;

OMIM relation
- Leptin receptor [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_associated_with_disease
- Diabetes Mellitus [NCIt concept]
- Obesity [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 1: 65603007-65815197 [NCIt concept]
gene_in_chromosomal_location
- 1p31 [NCIt concept]
gene_is_element_in_pathway
- Adipocytokine Signaling Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Insulin Resistance Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
- PTPN1 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Leukopoiesis [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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