Family

Hamartin (IPR007483)

Short name: Hamartin

Family relationships

None.

Description

This family includes the hamartin protein which is thought to function as a tumour suppressor. The hamartin protein interacts with the tuberin protein IPR003913. Tuberous sclerosis complex (TSC) is an autosomal dominant disorder and is characterised by the presence of hamartomas in many organs, such as brain, skin, heart, lung, and kidney. It is caused by mutation in either TSC1 or TSC2 tumour suppressor genes. TSC1 encodes a protein, hamartin, containing two coiled-coil regions, which have been shown to mediate binding to tuberin. The TSC2 gene codes for tuberin IPR003913. These two proteins function within the same pathway(s) regulating cell cycle, cell growth, adhesion, and vesicular trafficking [PMID: 12167664].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER
Pfam