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 the PAPSS1 gene were identified in a female, age 6 with global developmental delay, severe motor impairment, and involuntary muscle contractions (dystonia) (read full description).

Date of Report

Nov 01, 2018

Full Name

3'-phosphoadenosine 5'-phosphosulfate synthase 1

Chromosome 4 (4q25)


The PAPSS1 gene codes for an enzyme that acts as a sulfate donor (Xu et al. 2000).

Database Links

GeneCards: GC04M107590

NCBI Gene: 9061

OMIM: 603262

UniProtKB/Swiss-Prot: O43252

Clinical Significance

Changes in the PAPSS1 gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Inheritance Pattern Autosomal recessive
Position (hg19) chr4:g.108615007 & chr4:g.108615052T
Transcript NM_005443.4
DNA Change c.331C>T & c.286A>G
Protein Change p.Arg111Ter & p.Asn96Asp
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