SLC12A2

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a male, age 7 with global developmental delay, hearing loss, gastrointestinal abnormalities, and absent saliva flow (xerostomia) (read full description).

Date of Report

Jul 17, 2019

Full Name

solute carrier family 12 member 2

Location
Chromosome 5 (5q23.3)


Function

The SLC12A2 gene codes for a protein called NKCC1 (Na-K-2Cl cotransporter-1), which is important in sodium and chloride transport and reabsorption. (Payne et al., 1995)

Database Links

GeneCards: GC05P128083

NCBI Gene: 6558

OMIM: 600840

UniProtKB/Swiss-Prot: Q53ZR1

Clinical Significance

A change in this gene was identified in a UDN participant (Macnamara et al. 2019). The site is looking for other individuals with heterozygous, compound heterozygous, or homozygous variants in this gene.

Gene SLC12A2
Inheritance Pattern Autosomal recessive
Position chr5:127441491-127471419delins34
Transcript
DNA Change
Protein Change N/A
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