AMH - anti-Mullerian hormone Gene
Also Known as MIF; MIS
Species: Homo sapiens
About AMH
This gene has 3 transcripts (splice variants), 168 orthologues and is associated with 2 phenotypes. Biased expression in testis (RPKM 2.0), brain (RPKM 1.2) and 10 other tissues.
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of Smad Family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]
AMH Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000479.5 | NP_000470.3 | muellerian-inhibiting factor preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20861221 | GOA |
| enables signaling receptor binding |
IPI
IPI: Inferred from physical interaction
|
14750901 | GOA |
| enables type II transforming growth factor beta receptor binding |
IDA
IDA: Inferred from direct assay
|
34155118 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in Mullerian duct regression |
IDA
IDA: Inferred from direct assay
|
14695376 | GOA |
| involved in Mullerian duct regression |
IMP
IMP: Inferred from mutant phenotype
|
34155118 | GOA |
| involved in anti-Mullerian hormone receptor signaling pathway |
IDA
IDA: Inferred from direct assay
|
20861221 | GOA |
| involved in positive regulation of SMAD protein signal transduction |
IDA
IDA: Inferred from direct assay
|
20861221 | GOA |
| involved in positive regulation of gene expression |
IMP
IMP: Inferred from mutant phenotype
|
14695376 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
3754790 | GOA |
AMH Protein Structure
AMH_N: Anti-Mullerian hormone, N terminal region (77 - 441)
TGF_beta: Transforming growth factor beta like domain (460 - 560)
- 0
- 100
- 200
- 300
- 400
- 500
- 560 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
muellerian-inhibiting factor |
|
Recombinant AMH Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P74413 | Muellerian-inhibiting factor/AMH Protein, Human (HEK293, His) | NP_000470.2 (L25-R560) | ≥ 90%, as determined by reducing SDS-PAGE. |
AMH Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P86771 | AMH Antibody (YA6464) | WB, IHC-P, IHC-F, IF-Tissue | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
|
| Persistent Mullerian Duct Syndrome |
|
|
| Polycystic Ovary Syndrome |
|
|
| Disorder Of Sexual Development |
|
|
| Genetic Non-Acquired Premature Ovarian Failure |
|
|
| Ovarian Hyperstimulation Syndrome |
|
|
| Chronic Salpingo-Oophoritis |
|
|
| Gonadal Dysgenesis |
|
|
| Varicocele |
|
|
| Benign Teratoma |
|
|
| Freemartinism |
|
|
| Pseudohermaphroditism |
|
|
| Adhesions Of Uterus |
|
|
| Ovarian Disease |
|
|
| Medulloadrenal Hyperfunction |
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Dermoid Cyst Of Ovary |
|
|
| Myoma |
|
|
| Galactosemia I |
|
|
| Turner Syndrome |
|
|
| Mixed Gonadal Dysgenesis |
|
|
| Hermaphroditism |
|
|
| Hyperandrogenism |
|
|
| Subserous Uterine Fibroid |
|
|
| Reproductive Organ Benign Neoplasm |
|
|
| Uterine Benign Neoplasm |
|
|
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
|
| Testicular Torsion |
|
|
| Cystic Teratoma |
|
|
| Primary Ovarian Insufficiency 6 |
|
|
| Endometriosis Of Ovary |
|
|
| Ovarian Cyst |
|
|
| Spermatogenic Failure |
|
|
| Testicular Gonadoblastoma |
|
|
| Premature Menopause |
|
|
| Hypogonadotropic Hypogonadism |
|
|
| Salpingitis Isthmica Nodosa |
|
|
| Complete Androgen Insensitivity Syndrome |
|
|
| Infertility |
|
|
| Steroid Inherited Metabolic Disorder |
|
|
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
|
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
|
| Inguinal Hernia |
|
|
| Androgen Insensitivity, Partial |
|
|
| Salpingo-Oophoritis |
|
|
| Teratoma |
|
|
| Gender Incongruence |
|
|
| Leydig Cell Hypoplasia |
|
|
| Anovulation |
|
|
| Ovarian Benign Neoplasm |
|
|
| Postmenopausal Atrophic Vaginitis |
|
|
| 46,Xx Sex Reversal |
|
|
| Sex Cord-Gonadal Stromal Tumor |
|
|
| Estrogen Excess |
|
|
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
|
| Testicular Disease |
|
|
| Hemometra |
|
|
| Sebaceous Gland Disease |
|
|
| Ectopic Pregnancy |
|
|
| Maxillonasal Dysplasia, Binder Type |
|
|
| Oligoasthenoteratozoospermia |
|
|
| Luteoma |
|
|
| Central Precocious Puberty |
|
|
| Gonadoblastoma |
|
|
| 46,Xy Sex Reversal |
|
|
| Salpingitis |
|
|
| Adenomyoma |
|
|
| Androgen Insensitivity Syndrome |
|
|
| Pelvic Varices |
|
|
| 46 Xx Gonadal Dysgenesis |
|
|
| Chronic Salpingitis |
|
|
| Lipoid Congenital Adrenal Hyperplasia |
|
|
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
|
| Testicular Granulosa Cell Tumor |
|
|
| Juvenile Type Testicular Granulosa Cell Tumor |
|
|
| Ovarian Germ Cell Cancer |
|
|
| Precocious Puberty, Male-Limited |
|
|
| 46,Xy Sex Reversal 9 |
|
|
| Endometrial Disease |
|
|
| Oligospermia |
|
|
| Mixed Germ Cell Cancer |
|
|
| Spermatogenic Failure, X-Linked, 1 |
|
|
| Premature Ovarian Failure 1 |
|
|
| Submucous Uterine Fibroid |
|
|
| Ovarian Serous Cystadenofibroma |
|
|
| Tuberculous Epididymitis |
|
|
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
|
| Leech Infestation |
|
|
| Granulomatous Endometritis |
|
|
| Ovarian Serous Adenofibroma |
|
|
| Gastric Teratoma |
|
|
| Ovarian Large-Cell Neuroendocrine Carcinoma |
|
|
| Testicular Cancer |
|
|
| Testicular Germ Cell Cancer |
|
|
| Renal Hypodysplasia/Aplasia 1 |
|
|
| Chromosomal Duplication Syndrome |
|
|
| Kallmann Syndrome |
|
|
| Diabetes Mellitus |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | AMH | MGD | MGI:88006 |
| Bos taurus | AMH | VGNC | VGNC:25864 |
| Felis catus | AMH | VGNC | VGNC:69345 |
| Macaca mulatta | AMH | VGNC | VGNC:108463 |
| Rattus norvegicus | AMH | RGD | RGD:2108 |
| Others | AMH | NCBI |