CGGBP1 - CGG triplet repeat binding protein 1 Gene

Homo sapiens

Also known as CGGBP; p20-CGGBP

Gene ID: 8545 | Gene type: protein coding

About CGGBP1

Cytogenetic location: 3p11.1 Genomic coordinates (GRCh38): 3:88,051,950-88,149,870 (from NCBI)

This gene has 7 transcripts (splice variants) and 128 orthologues. Ubiquitous expression in lymph node (RPKM 30.3), thyroid (RPKM 26.5) and 25 other tissues.

Summary

This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-regulatory elements, can produce hairpin structures which cause DNA replication errors, and form regions prone to chromosomal breakage. CGG repeats are also targets for CpG methylation. In addition to its ability to bind CGG repeats and regulate transcription, this gene is believed to play a role in DNA damage repair and telomere protection. In vitro studies indicate this protein does not bind to methylated CpG sequences. [provided by RefSeq, Jul 2017]

CGGBP1 Products(3)

mRNA	Protein	Name
NM_001008390.2	NP_001008391.1	CGG triplet repeat-binding protein 1
NM_001195308.2	NP_001182237.1	CGG triplet repeat-binding protein 1
NM_003663.4	NP_003654.3	CGG triplet repeat-binding protein 1

Protein Preferred Names

Protein Names

CGG triplet repeat-binding protein 1

20 kDa CGG-binding protein

Related Diseases

Diseases

Alias

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Intellectual Disability And Macroorchidism	Frax Syndrome
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Fragile-X Syndrome
Fraxe Syndrome

Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Northern Epilepsy	Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant
Epmr	Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Northern Epilepsy Syndrome	Epilepsy, Progressive, With Mental Retardation
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant	Progressive Epilepsy With Mental Retardation, Northern Epilepsy
Cln8 Disease, Northern Epilepsy Variant	Ncl, Northern Epilepsy Variant
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant	CLN8NE
Ceroid Lipofuscinosis, Neuronal, 8

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02584	CGGBP1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CGGBP1	VGNC	VGNC:102666
Rattus norvegicus	CGGBP1	RGD	RGD:1308129
Macaca mulatta	CGGBP1	VGNC	VGNC:84203
Canis familiaris	CGGBP1	VGNC	VGNC:39182
Bos taurus	CGGBP1	VGNC	VGNC:106690
Mus musculus	CGGBP1	MGD	MGI:2146370

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