GALNT17

On this page, you will find information about genetic changes that were 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.

Changes in this gene were identified in a female, age 7 with respiratory failure, feeding difficulties and global developmental delay (read full description).

Date of Report

Oct 22, 2019

Full Name

polypeptide N-acetylgalactosaminyltransferase 17

Location
Chromosome 7 (7q11.22)


Function

The GALNT17 gene codes for the N-acetylgalactosaminyltransferase protein and may play a role in membrane trafficking (NCBI gene).

Database Links

GeneCards: GC07P071133

Genetics Home Reference: GALNT17

NCBI Gene: 64409

OMIM: 615137

UniProtKB/Swiss-Prot: Q6IS24

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene GALNT17
Inheritance Pattern Autosomal recessive
Position Chr7:70800695; Chr7:71175870
Transcript NM_022479.2; NM_022479.2
DNA Change c.398C>T; c.1625A>T
Protein Change p.S133F; p.D542V
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