Coiled-Coil and C2 Domains-Containing Protein 1A

Alternative Names

CC2D1A

Length

24,679 bases

No. of Exons

No. of isoforms

Protein Name

Coiled-coil and C2 domain-containing protein 1A

Molecular Mass

104062 Da

Amino Acid Count

951

Genomic Location

chr19:13,906,201-13,930,879

Gene Map Locus

19p13.12

Description

This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. [From OMIM]

Epidemiology in the Arab World

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Egypt

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_017721.5:c.2693del	Egypt	NC_000019.10:g.13929643del	Pathogenic	Pathogenic	Intellectual Developmental Disorder, Autosomal Recessive 3	NG_013089.1:g.28501del; NM_017721.5:c.2693del; NP_060191.3:p.Gly898ValfsTer45	1423002835	984700

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D1A

Contributors

Sayeeda Hana: 24.09.2024

Edit History

Sayeeda Hana: 24.09.2024

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