LEP
Homo sapiens
Gene Name: Leptin
Aliases: LEPD, OB, OBS
Chromosome No: 7
Chromosome Band: 7q32.1
Genetic Category: Rare single gene variant
Aliases: LEPD, OB, OBS
Chromosome No: 7
Chromosome Band: 7q32.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 6
Evidence score: null
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 6
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Two novel overlapping duplications involving the LEP gene were identified in unrelated ASD cases (Prasad et al., 2012).
Molecular Function
This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
