UNC13 Homolog D

Alternative Names

UNC13D
UNC13, C. Elegans, Homolog of, D
MUNC13-4

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Length

17,180 bases

No. of Exons

No. of isoforms

Protein Name

Protein UNC-13 homolog D

Molecular Mass

123282 Da

Amino Acid Count

1090

Genomic Location

chr17:75,827,224-75,844,403

Gene Map Locus

17q25.1

Description

This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_199242.2:c.610A>G	Lebanon	NC_000017.11:g.75840961T>C	Likely Benign, Uncertain Significance	Uncertain Significance		NG_007266.1:g.8757A>G; NM_199242.2:c.610A>G; NP_954712.1:p.Met204Val	144722609	574872
NM_199242.2:c.670C>T	Lebanon	NC_000017.11:g.75840775G>A	Uncertain Significance	Uncertain Significance	Familial Mediterranean Fever	NG_007266.1:g.8943C>T; NM_199242.2:c.670C>T; NP_954712.1:p.His224Tyr	145607492	464459

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=unc13d

Contributors

Sayeeda Hana: 03.02.2021

Edit History

Sayeeda Hana: 03.02.2021