Trafficking Protein Particle Complex, Subunit 6B

Alternative Names

TRAPPC6B
TRAPP Complex, Subunit 6B
TPC6

Length

22,722 bases

No. of Exons

No. of isoforms

Protein Name

Trafficking protein particle complex subunit 6B

Molecular Mass

17983 Da

Amino Acid Count

158

Genomic Location

chr14:39,147,811-39,170,532

Gene Map Locus

14q21.1

Description

TRAPPC6B encodes trafficking protein particle complex subunit 6B (TRAPP complex subunit 6B), which is a component of transport protein particle (TRAPP) complex. TRAPP complex subunit 6B is involved in vesicle-mediated transport as well as differentiation and development of the nervous system. Mutations in TRAPPC6B are associated with neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA).

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001079537.1:c.150-2A>G	Egypt	NC_000014.9:g.39158404T>C	Pathogenic	Pathogenic	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy	NM_001079537.1:c.150-2A>G	1347223331	488423
NM_001079537.2:c.23T>A	Lebanon	chr14:39170073		Pathogenic	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy	NM_001079537.2:c.23T>A; NP_001073005.1:p.Leu8Ter
NM_001079537.2:c.267+1G>A	United Arab Emirates	NC_000014.9:g.39158284C>T		Pathogenic	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy	NM_001079537.2:c.267+1G>A; NP_001073005.1:p.?

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAPPC6B

Contributors

Asha Deepthi: 12.07.2022
Sayeeda Hana: 24.10.2021
Asha Deepthi: 05.11.2020

Edit History

Pratibha Nair: 21.12.2022
Asha Deepthi: 12.07.2022
Asha Deepthi: 05.11.2020

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