Official symbol | AMH |
Gene id | 268 |
Organism | Homo sapiens |
Official full symbol | anti-Mullerian hormone |
Gene type | protein-coding |
Also known as | MIF, MIS |
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. |
Genomic regions | Chromosome 19 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
AMH-201 | ENST00000221496.5 | 1809 | 560aa | Protein coding | CCDS12085 | P03971 | NM_000479.5 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
AMH-203 | ENST00000592877.1 | 534 | No protein | Processed transcript | - | - | - | TSL:3, |
AMH-202 | ENST00000589313.2 | 1686 | No protein | Retained intron | - | - | - | TSL:5, |
Target Gene | AMH |
This KO Strategy | loading |
Red Cotton™ Notes | Gene AMH had been KO in hela cell line. |
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