TBCC Domain-Containing Protein 1

Alternative Names

TBCCD1

Length

24,477 bases

No. of Exons

No. of isoforms

Protein Name

TBCC domain-containing protein 1

Molecular Mass

63530 Da

Amino Acid Count

557

Genomic Location

chr3:186,546,067-186,570,543

Gene Map Locus

3q27.3

Description

Involved in several processes, including maintenance of Golgi location; maintenance of centrosome location; and regulation of cell shape. Located in spindle pole centrosome. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_018138.5:c.1449del	Saudi Arabia	NC_000003.12:g.186554351del		Likely Pathogenic	Spermatogenic Failure 1	NM_018138.5:c.1449del; NP_060608.1:p.Gly485ValfsTer24

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=TBCCD1 https://www.ncbi.nlm.nih.gov/gene/55171

Contributors

Pratibha Nair: 20.03.2023

Edit History

Pratibha Nair: 20.03.2023

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