SLC39A8

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 female, age 2, with global developmental delay, brain abnormalities, abnormal head movements, and trembling during precise movement (intention tremor) (read full description).

Date of Report

Apr 18, 2019

Full Name

solute carrier family 39 member 8

Location

Chromosome 4 (4q24)

Function

The SLC39A8 gene codes for a protein important in the function of zinc and manganese transporters. Defects in this gene have been linked to mitochondrial disorders, manganese deficiency, and congenital disorders of glycosylation (Riley, et al., 2017).

Database Links

GeneCards: SLC39A8

NCBI Gene: 64116

OMIM: 608732

UniProtKB/Swiss-Prot: Q9C0K1

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene SLC39A8

Inheritance Pattern Autosomal recessive

Position (hg19) chr4:g.103189058A>T

Transcript NM_022154.5

DNA Change c.1019T>A

Protein Change p.Ile340Asn

Note: only one variant identified.

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