type species | type | Pakistani people | Type (biology) | Diabetes mellitus type 1 | Type O Negative | Diabetes mellitus type 2 | Indo-Pakistani War of 1971 | Volkswagen Type 2 | Type I and type II errors | Type 56 assault rifle | type (biology) | Type 38 | Bugatti Type 57 | Type II supernova | Type Directors Club | Type 38 rifle | type genus | Type 59 | Type 45 destroyer | Pakistani cuisine | Jaguar S-Type | Indo-Pakistani War of 1947 | Handley Page Type O | Geranylgeranyltransferase type 1 | Blood type | Word (data type) | urban-type settlement | Type species | Type O' Negative |
Mutations in this gene have been shown to cause developmental disorders such as Spondyloepimetaphyseal dysplasia with joint laxity.
It is due to mutations in the Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) gene which is located on the long arm of chromosome 10 (10q22-q24).
•
Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving PAPSS2 (also known as "ATPSK2").