Zinc Finger- and BTB Domain-Containing Protein 18

Alternative Names

ZBTB18
Zinc Finger Protein 238
ZNF238
Repressor Protein, 58-Kd
RP58
C2H2-171

Length

8,824 bases

No. of Exons

No. of isoforms

Protein Name

Zinc finger and BTB domain-containing protein 18

Molecular Mass

58354 Da

Amino Acid Count

522

Genomic Location

chr1:244,048,652-244,057,475

Gene Map Locus

1q44

Description

This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_205768.3:c.593C>G	United Arab Emirates	NC_000001.11:g.244054367C>G		Likely Pathogenic	Mental Retardation, Autosomal Dominant 22	NG_033841.1:g.10429C>G; NM_205768.3:c.593C>G; NP_991331.1:p.Ser198Ter	768129179

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=zbtb18

Contributors

Pratibha Nair: 20.09.2021

Edit History

Pratibha Nair: 20.09.2021

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