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Table 1 BCPs implicated in neurodevelopmental disorders

From: Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins

Protein

Name

Alias

BRDs

Protein functions

Neurodevelopmental disorders

Reference

BAZ1A

Bromodomain adjacent to zinc finger domain, 1A

ACF1, WALp1, WCRF180

1

Chromatin remodeling factor

Williams syndrome

[5, 6]

BAZ1B

Bromodomain adjacent to zinc finger domain, 1B

WSTF, WBSCR9

1

Chromatin remodeling factor, transcriptional regulator

Williams syndrome

[6, 7]

BRD2

Bromodomain-containing protein 2

FSH, RING3

2

Increase transcription of E2F- regulated genes

Juvenile myoclonic epilepsy

[8]

BRD3

Bromodomain-containing protein 3

ORFX, RING3L

2

Transcription factor

Autism spectrum disorder

[9, 10]

BRWD3

Bromodomain and WD repeat-containing protein 3

BRODL

2

Transcription factor

Mental retardation

[11, 12]

CECR2

Cat eye syndrome critical region 2

 

1

Chromatin remodeling factor

Anencephaly

[13]

CREBBP

CREB-binding protein

CBP, KAT3A

1

HAT, transcription factors, transcription initiator

Rubinstein-Taybi syndrome

[14]

EP300

E1A-binding protein p300

p300, KAT3B

1

HAT

Rubinstein-Taybi syndrome 2

[15]

GCN5L2

General control of amino acid synthesis 5-like 2

KAT2A, GCN5

1

HAT

Neural tube defects

[16]

SMARCA2

SWI/SNF-related matrix associated anti-dependent regulator of chromatin a2

BRM, SNF2L2

1

Chromatin remodeling factor

Nicolaides-Baraitser syndrome

[17]

SMARCA4

SWI/SNF-related matrix associated actin-dependent regulator of chromatin a4

BRG1, SNF2L4, SNF2LB

1

Chromatin remodeling factor

Mental retardation

[18]

TAF1

TAF1 RNA polymerase II, TATA box-binding protein (TBP)-associated factor

TAFII250

2

Transcription initiation

X-linked dystonia-parkinsonism

[19]

  1. BCPs, bromodomain-containing proteins; BRDs, bromodomains.