Solute Carrier Family 9, Member 6

Alternative Names

SLC9A6
Sodium/Hydrogen Exchanger 6
NHE6

Length

72,674 bases

No. of Exons

No. of isoforms

Protein Name

Sodium/hydrogen exchanger 6

Molecular Mass

74162 Da

Amino Acid Count

669

Genomic Location

chrX:135,974,595-136,047,268

Gene Map Locus

Xq26.3

Description

This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants. [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_006359.3:c.1255G>T	Lebanon	chrX:136022592		Likely Pathogenic	Mental Retardation, X-Linked, Syndromic, Christianson Type	NG_017160.1:g.42160T>G; NM_006359.3:c.1255G>T; NP_006350.1:p.Val419Phe

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External Links

https://medlineplus.gov/genetics/gene/slc9a6/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A6 https://www.ncbi.nlm.nih.gov/gene/10479

Contributors

Pratibha Nair: 14.12.2020

Edit History

Pratibha Nair: 14.12.2020

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