Human Gene AMH (ENST00000221496.5) from GENCODE V44
Description: Homo sapiens anti-Mullerian hormone (AMH), mRNA. (from RefSeq NM_000479) RefSeq Summary (NM_000479): 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]. Gencode Transcript: ENST00000221496.5 Gencode Gene: ENSG00000104899.8 Transcript (Including UTRs) Position: hg38 chr19:2,249,323-2,252,073 Size: 2,751 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr19:2,249,333-2,251,957 Size: 2,625 Coding Exon Count: 5
ID:MIS_HUMAN DESCRIPTION: RecName: Full=Muellerian-inhibiting factor; AltName: Full=Anti-Muellerian hormone; Short=AMH; AltName: Full=Muellerian-inhibiting substance; Short=MIS; Flags: Precursor; FUNCTION: This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the Muellerian duct. It is also able to inhibit the growth of tumors derived from tissues of Muellerian duct origin. SUBUNIT: Homodimer; disulfide-linked. SUBCELLULAR LOCATION: Secreted. DISEASE: Defects in AMH are the cause of persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]. PMDS1 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. MISCELLANEOUS: Although it does not compete with EGF for receptor binding sites, MIS can inhibit the autophosphorylation of the EGF receptor in vitro. SIMILARITY: Belongs to the TGF-beta family. WEB RESOURCE: Name=Wikipedia; Note=Anti-Mullerian hormone entry; URL="http://en.wikipedia.org/wiki/Anti-m%C3%BCllerian_hormone";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF04709 - Anti-Mullerian hormone, N terminal region PF00019 - Transforming growth factor beta like domain
ModBase Predicted Comparative 3D Structure on P03971
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.