Table 1.
Transporters for UDP-sugars and sulfate as well as biosynthetic enzymes for PAPS.
| Transporters and enzymes | Coding genes (synonym) |
Chromosomal location | mRNA accession number | MIM number | Human genetic disorders | Clinical features | References for the human diseases | References for the knockout mice |
|---|---|---|---|---|---|---|---|---|
| Solute carrier family 26 member A2 (diastrophic dysplasia sulfate transporter) |
SLC26A2 (DTDST) | 5q31–q34 | NM_000112 | 600972 256050 222600 226900 |
Achondrogenesis type IB Atelosteogenesis type II Diastrophic dysplasia Multiple epiphyseal dysplasia autosomal recessive type | Lethal chondrodysplasia with severe under-development of skeleton, extreme micromelia, death before or immediately after birth. Epiphyseal dysplasia and early onset osteoarthritis. |
[38–40] | [41] |
|
| ||||||||
| Solute carrier family 35 member D1 (UDP-GlcUA/UDP-GalNAc dual transporter) | SLC35D1 (UGTrel7) | 1p32-p31 | NM_015139 | 269250 | Schneckenbecken dysplasia |
Neonatal lethal chondrodysplasia, platyspondyly with oval-shaped vertebral bodies, extremely short long bones with dumbbell-like appearance, and small ilia with snail-like appearance. | [42] | [42] |
|
| ||||||||
| PAPS synthase 2 | PAPSS2 | 10q24 |
NM_004670 NM_001015880 |
612847 | Spondyloepimetaphyseal dysplasia Pakistani type (PAPSS2 type) Hyperandrogenism Brachyolmia autosomal recessive type | Short, bowed lower limbs, enlarged knee joint, kyphoscoliosis, and mild generalized brachydactyly. Androgen excess, premature pubarche, hyperandrogenic anovulation, low level of serum, dehydroepiandrosterone, short trunk, kyphosis, and scoliosis. |
[43–48] | [22, 23, 49–53] |
|
| ||||||||
| 3′-Phosphoadenosine 5′-phosphate 3′-phosphatase |
IMPAD1 (PAPP) | 8q12.1 | NM_017813 | 614078 614010 |
Chondrodysplasia with joint dislocations GPAPP type | Short stature, chondrodysplasia, with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. | [54] | [55] |
MIM: mendelian inheritance in man.
Among the several transporters and biosynthetic enzymes involved in PAPS and UDP-sugars, some of the mutations that occur have been shown to cause human genetic disorders and are listed here.