Disease-gene associations mined from literature

Literature associating MACROD1 and autosomal recessive hypercholesterolemia

MACROD1 [ENSP00000255681]

[Protein ADP-ribosylglutamate] hydrolase; Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Plays a role in estrogen signaling. Binds to androgen receptor (AR) and amplifies the transactivation function of AR in response to androgen. May play an important role in carcinogenesis and/or progression of hormone-dependent cancers by feed-forward mechanism that activates ESR1 transactivation. Could be an ESR1 coactivator, providing a positive feedback regulatory loop for ESR1 signal transduction. Could be involved in invasive growth by down-regulating CDH1 in endometrial cancer cells. Enhances ESR1-mediated transcription activity.

Synonyms:  MACROD1,  MACROD1p,  hMACROD1,  Q9BQ69,  LRP16 ...

Linkouts:  STRING  Pharos  UniProt  OMIM