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MIF

Chr 22q11.23

macrophage migration inhibitory factor

Aliases:
GIF
MANE:
ENST00000215754.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • COVID-19 research

    Unknown
  • Familial Meniere Disease

Disease associations (Open Targets)

  • rheumatoid arthritis

    0.68
  • juvenile idiopathic arthritis

    0.43
  • systemic-onset juvenile idiopathic arthritis

    0.42
  • cystic fibrosis

    0.39
  • chronic graft versus host disease

    0.26
  • osteoarthritis, hand

    0.18
  • neoplasm

    0.12
  • Alzheimer disease

    0.12
  • breast cancer

    0.12
  • hepatocellular carcinoma

    0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Anti-Muellerian hormone

The anti-Muellerian hormone (AMH) plays an important role in several reproductive functions (PubMed:14742691, PubMed:34155118, PubMed:3754790, PubMed:8469238). Anti-Muellerian hormone binds and activates AMHR2, its specific type-II receptor, that heterodimerizes with type-I receptors (ACVR1 and BMPR1A) to regulate target gene expression through downstream SMAD protein signal transduction (PubMed:20861221, PubMed:34155118). Produced and secreted by Sertoli cells of the male fetus, anti-Muellerian hormone induces Muellerian duct regression during male fetal sexual differentiation (PubMed:34155118, PubMed:3754790, PubMed:8469238). In female, it is produced by granulosa cells of the preantral and small antral follicles and acts as a negative regulator of the primordial to primary follicle transition and decreases FSH sensitivity of growing follicles (PubMed:14742691). Also plays a role in Leydig cell differentiation and function (By similarity)

Curated MONDO disease pages that list MIF among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.