PAPSS1

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 10, with global developmental delay, severe motor impairment, involuntary muscle contractions (dystonia), and increase in activated immune cells (recurrent hemophagocytic lymphohistiocytosis (HLH)) (read full description).

Date of Report

Nov 01, 2018

Full Name

3'-phosphoadenosine 5'-phosphosulfate synthase 1

Location

Chromosome 4 (4q25)

Function

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

Database Links

GeneCards: PAPSS1

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.

Gene PAPSS1

Inheritance Pattern Autosomal recessive

Position (hg19) chr4:g.108615007G>A & g.108615052T>C

Transcript NM_005443.4

DNA Change c.331C>T & c.286A>G

Protein Change p.Arg111Ter & p.Asn96Asp

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