MRAP Chromosome 21
Melanocortin 2 receptor accessory protein
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What This Gene Does
This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
Associated Conditions (3)
MRAP-related disorder
Glucocorticoid deficiency 1
Glucocorticoid deficiency 2
Key Variants
RS1064796398
Likely pathogenic
MRAP-related disorder, MRAP-related disorder
Health Risk
RS1476574441
Pathogenic
Glucocorticoid deficiency 1, Glucocorticoid deficiency 2, Glucocorticoid deficiency 1
Health Risk
RS1555897462
Pathogenic
Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
Health Risk
RS1569025178
Pathogenic
Glucocorticoid deficiency 2, Glucocorticoid deficiency 2
Health Risk
RS2516869613
Pathogenic
Glucocorticoid deficiency 2, Glucocorticoid deficiency 2
Health Risk
RS566223651
Pathogenic
Glucocorticoid deficiency 2, Glucocorticoid deficiency 2, Glucocorticoid deficiency 2
Health Risk
RS80358231
Pathogenic
Glucocorticoid deficiency 2, Glucocorticoid deficiency 1, Glucocorticoid deficiency 2
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064796398 | Health Risk | Likely pathogenic | MRAP-related disorder, MRAP-related disorder |
| RS1476574441 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 2, Glucocorticoid deficiency 1 |
| RS1555897462 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS1569025178 | Health Risk | Pathogenic | Glucocorticoid deficiency 2, Glucocorticoid deficiency 2 |
| RS2516869613 | Health Risk | Pathogenic | Glucocorticoid deficiency 2, Glucocorticoid deficiency 2 |
| RS566223651 | Health Risk | Pathogenic | Glucocorticoid deficiency 2, Glucocorticoid deficiency 2, Glucocorticoid deficiency 2 |
| RS80358231 | Health Risk | Pathogenic | Glucocorticoid deficiency 2, Glucocorticoid deficiency 1, Glucocorticoid deficiency 2 |