. Author manuscript; available in PMC: 2013 Feb 5.

Published in final edited form as: Nat Rev Endocrinol. 2012 Jun 26;8(10):598–604. doi: 10.1038/nrendo.2012.100

Table 1.

Coregulators involved in known and putative human genetic disease states

Coregulator	Human disease state	Relationship between coregulator and disease
SRC-2⁶	Von Gierke syndrome	Loss of SRC-2 results in reduced G6Pase in the liver^*, phenocopying the glycogen storage disorder of this syndrome^‡
SRC-3¹⁰	CACT deficiency	Loss of SRC-3^* resembles CACT^‡ deficiency with hypoketotic hypoglycaemia and muscle weakness
PGC-1α^13,14	Genetic predisposition to obesity	Single nucleotide polymorphisms result in increased risk for diabetes mellitus and obesity^‡
CBP and p300^21,22	Rubenstein–Taybi syndrome	Heterozygous disruption of CBP or p300 results in mental retardation and other defects due to reduced histone acetylation^‡
MTA1²⁷	Parkinson disease	MTA1 forms a complex with DJ1 and Pitx3 to control tyrosine hydroxylase expression^§
TAZ^28,29	Thyroid gland dysgenesis	TAZ is required for maintenance of genes responsible for thyroid gland function^‡^§
Lipin-2^31,32	Majeed syndrome	A missense mutation in lipin-2 is responsible for this syndrome and the mutation results in a loss of lipin-2 coactivator function^‡
MRTF-A^33,34	Cardiac myocyte stress	MRTF-A coactivator function is required for sufficient SRF-mediated gene expression in response to cardiac myocyte mechanical stretching^*
N-CoR and SMRT³⁹	Resistance to thyroid hormone	Mutations in the thyroid hormone receptor can result in the retention of N-CoR and SMRT to the receptor when bound to agonist ligands^‡
N-CoR and SMRT⁴⁰	Gene fusions in leukaemias	N-CoR–SMRT gene fusions result in inappropriate repression of genes required to maintain leukocytes in their differentiated state^‡
HDAC4^44,45	Brachydactyly mental retardation syndrome	Disruption of HDAC4 is responsible for bone defects observed in this syndrome^‡
Multiple HDACs^46,47	Chronic obstructive pulmonary disease	Reduced expression of multiple HDACs results in reduced suppression of inflammation by glucocorticoids^‡

Mouse studies.

^‡

Human studies.

^§

Cell-culture-based studies.

Abbreviations: CACT, carnitine–acylcarnitine translocase; G6Pase, glucose 6-phosphatase; HDAC, histone deacetylase; SRF, serum response factor.