BMP6 Chromosome 6

Bone morphogenetic protein 6
4 variants 4 Health Risk

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What This Gene Does
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 each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Bone morphogenetic proteins
Locus Type
gene with protein product
Location
6p24.3
Ensembl
ENSG00000153162
Associated Conditions (4)
Neonatal hemochromatosis
Premature ovarian failure
Iron overload
susceptibility to
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS143007713 Health Risk Conflicting classifications of pathogenicity Neonatal hemochromatosis, Neonatal hemochromatosis
RS747427445 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS1761754747 Health Risk risk factor Iron overload, susceptibility to, Iron overload
RS201486498 Health Risk risk factor Iron overload, susceptibility to, Iron overload
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