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Defective ACTH causes obesity and POMCD
An instance of the biological pathway in Homo sapiens with Reactome ID (R-HSA-5579031)
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Statements
instance of
biological pathway
1 reference
stated in
Reactome
retrieved
8 July 2022
Reactome ID
R-HSA-5579031
part of
Diseases of metabolism
1 reference
stated in
Reactome
retrieved
8 July 2022
Reactome ID
R-HSA-5579031
found in taxon
Homo sapiens
1 reference
stated in
Reactome
retrieved
8 July 2022
Reactome ID
R-HSA-5579031
exact match
https://identifiers.org/reactome:R-HSA-5579031
1 reference
stated in
Reactome
retrieved
8 July 2022
Reactome ID
R-HSA-5579031
has part(s)
Defective ACTH does not bind MCR2
1 reference
stated in
Reactome
retrieved
8 July 2022
Reactome ID
R-HSA-5579031
cites work
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
1 reference
stated in
Reactome
retrieved
8 July 2022
Reactome ID
R-HSA-5579031
Mutations in the human proopiomelanocortin gene
1 reference
stated in
Reactome
retrieved
8 July 2022
Reactome ID
R-HSA-5579031
A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism
1 reference
stated in
Reactome
retrieved
8 July 2022
Reactome ID
R-HSA-5579031
Obesity, genetics and the skin
1 reference
stated in
Reactome
retrieved
8 July 2022
Reactome ID
R-HSA-5579031
Identifiers
Reactome ID
R-HSA-5579031
1 reference
stated in
Reactome
retrieved
8 July 2022
Reactome ID
R-HSA-5579031
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