Primary Identifier | MGI:1330223 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 23972 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables adenylylsulfate kinase activity and sulfate adenylyltransferase (ATP) activity. Involved in 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process. Acts upstream of or within blood coagulation; bone development; and sulfate assimilation. Predicted to be active in cytosol. Is expressed in several structures, including genitourinary system; heart; limb; sensory organ; and skeleton. Used to study spondyloepimetaphyseal dysplasia, Pakistani type. Human ortholog(s) of this gene implicated in spondyloepimetaphyseal dysplasia, Pakistani type. Orthologous to human PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2). PHENOTYPE: Mice homozygous for mutation s in this gene display delayed growth and shorter limbs and other abnormalities in bone formation. [provided by MGI curators] |