PAPSS2

Function

Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. May have an important role in skeletogenesis during postnatal growth (By similarity).

Involvement in disease

Brachyolmia type 4 with mild epiphyseal and metaphyseal changes

BCYM4

A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM4 is an autosomal recessive form with mild epiphyseal and metaphyseal changes. Clinical features include short stature evidenced at birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints. Some BCYM4 patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature.

None

The disease is caused by variants affecting the gene represented in this entry.

Pathway

Sulfur metabolism; sulfate assimilation.

Sequence similarities

In the N-terminal section; belongs to the APS kinase family.

In the C-terminal section; belongs to the sulfate adenylyltransferase family.

Tissue specificity

Expressed in cartilage and adrenal gland.

Alternative names

• Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
• PAPS synthase 2
• PAPSS 2
• Sulfurylase kinase 2
• SK 2
• SK2
• PAPSS2
• ATPSK2

Database links

• entrezGene:9060
• omim:603005
• swissprot:O95340

Target type

Proteins

Primary research area

Oncology

Molecular weight

69501Da