Claudin 16

Alternative Names

CLDN16
Paracellin 1
PCLN1

Length

89,603 bases

No. of Exons

No. of isoforms

Protein Name

Claudin-16

Molecular Mass

33836 Da

Amino Acid Count

305

Genomic Location

chr3:190,322,541-190,412,143

Gene Map Locus

3q28

Description

The CLDN16 gene encodes an integral membrane protein belonging to the claudin family. It is primarily expressed in the thick ascending limb of the Henle loop in the kidneys, wherein it is responsible for the paracellular resorption of magnesium ions.

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_006580.3:c.704C>A	Lebanon	chr3:190408425	Pathogenic	Pathogenic	Hypomagnesemia 3, Renal	NG_008149.1:g.25374C>A; NM_006580.3:c.704C>A; NP_006571.1:p.Ser235Tyr	104893728	5933

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=CLDN16

Contributors

Sayeeda Hana: 22.10.2019

Edit History

Sayeeda Hana: 22.10.2019

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