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Details of AIP gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| AIP | XAP2 | O00170 | AIP_HUMAN | 9049
| ENSG00000110711
| AH receptor-interacting protein | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Growth hormone-secreting pituitary adenoma (GHSPA) [MIM:102200]: Pituitary adenomas include somatotropinoma and prolactinoma. Note=The disease is caused by mutations affecting the gene represented in this entry. |
102200 |
ACTH-secreting pituitary adenoma (ASPA) [MIM:219090]: A pituitary adenoma resulting in excessive production of adrenocorticotropic hormone. This leads to hypersecretion of cortisol by the adrenal glands and ACTH-dependent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry. |
219090 |
Prolactin-secreting pituitary adenoma (PSPA) [MIM:600634]: Most common type of hormonally active pituitary adenoma. Note=The disease is caused by mutations affecting the gene represented in this entry. |
600634 |
