Genomic coordinate (human 10:87,659,878 PAPSS2) & (mouse 32,537,190 Papps2).
Cytoband (human 10q23.2 PAPSS2) & (mouse 19qC1 Papss2).
Here I present: “Spondyloepiphyseal Dysplasia (Pakistani)”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PAPSS2) icd10=Q77.7
Spondyloepiphyseal Dysplasia is a genetic condition affecting the bones.
🧬 Human PAPSS2
Official name: PAPSS2 — 3′-phosphoadenosine 5′-phosphosulfate synthase 2
Function: Bifunctional enzyme that synthesizes PAPS, the universal sulfate donor used by sulfotransferases in metabolism and biosynthetic pathways; important for normal skeletal development (mutations cause Spondyloepimetaphyseal dysplasia, Pakistani type).
Chromosomal location (human):
Chromosome 10q23.2
Genomic coordinates 10:87,659,878
Ensembl Gene identifiers:
HGNC: PAPSS2
NCBI OMIM’: 603005 (associated with spondyloepimetaphyseal dysplasia, Pakistani type)
Clinical relevance:
Defects cause Spondyloepimetaphyseal dysplasia, PAPSS2 type (Pakistani type) — an autosomal recessive skeletal dysplasia with impaired sulfate metabolism affecting cartilage and bone.
🐭 Mouse Homolog — Papss2
Official mouse gene: Papss2 — 3′-phosphoadenosine 5′-phosphosulfate synthase 2
Orthology: Orthologous to human PAPSS2 — shares conserved function in sulfate biosynthesis and skeletal development.
NCBI
Chromosomal location (mouse):
Genomic coordinate 19:32,573,190)
Cytoband 19qC1
Mouse model:
Papss2^bm (“brachymorphic”) mutant mice have altered skeletal development and were used to study human PAPSS2-related dysplasia.
📌 Summary
Human
PAPSS2
10q23.2
PAPS synthetase — sulfate activation
Mutations → SEMD, PAPSS2 type (Pakistani type)
Mouse
Papss2
Chr 19
PAPS synthetase — sulfate activation
Orthologous gene; brachymorphic mouse model.
Bifunctional 3′-phosphoadenosine 5′-phosphosulfate synthetase-2 is an enzyme that in humans is encoded by the PAPSS2 gene. There is evidence that spondyloepiphyseal dysplasia (Pakistani) is caused by mutation in the PAPSS2 gene encoded on genomic coordinate
10:87,659,878 and cytoband 10q23.2 in humans.
