. 2021 Nov 24;9:764781. doi: 10.3389/fcell.2021.764781

TABLE 1.

Transporters for UDP-sugars and sulfate, biosynthetic enzymes for PAPS and UDP-GlcA, and related proteins. Among the several transporters and biosynthetic enzymes involved in PAPS and UDP-sugars, GAG biosynthesis-related genes are listed here.

Transporters and enzymes	Coding genes	mRNA accession no	Phenotypes of KO or mutant mouse	Human genetic disorders	MIM number	Refs. For knockout mouse
UDP-glucose dehydrogenase	Ugdh	NM_009466	Defects in migration of mesoderm and endoderm, and disturbance of FGF signaling	Developmental and epileptic encephalopathy 84	603370	García-García and Anderson, (2003)
UDP-glucose dehydrogenase	Ugdh	NM_009466		Developmental and epileptic encephalopathy 84	618792	García-García and Anderson, (2003)
PAPS synthase 2	Papss2	NM_001201470	A dome-shaped skull, reductions in limb size and axial skeletons, and disturbance of Indian hedgehog signaling	Brachyolmia 4 with mild epiphyseal and metaphyseal changes; Spondyloepimetaphyseal dysplasia Pakistani type (PAPSS2 type); Hyperandrogenism	612847	Orkin et al. (1976), Schwartz et al. (1978), Sugahara and Schwartz (1979), Sugahara and Schwartz (1982a), Sugahara and Schwartz (1982b), Pennypacker et al. (1981), Cortes et al. (2009)
		NM_001360403
		NM_011864
		NM_011864			603005
Diastrophic dysplasia sulfate transporter (Solute carrier family 26 member A2)	Slc26a2	NM_007885	Growth retardation, joint contractures, and skeletal dysplasia including irregular size of chondrocytes, delay in the formation of the secondary osscification center, osteoporosis of long bone, severe thoracic kyphosis, bite overclosure, and hip dysplasia with pelvic deformity	Achondrogenesis type IB; Atelosteogenesis type II; De la Chapelle dysplasia; Diastrophic dysplasia; Diastrophic dysplasia, broad bone-platyspondylic variant; Epiphyseal dysplasia multiple 4	600972	Forlino et al. (2005)
					256050
					222600
					226900
					606718
UDP-GlcA/UDP-GalNAc dual transporter (Solute carrier family 35 member D1)	Slc35d1	NM_001356276	A lethal form of skeletal dysplasia including severe shortening of limbs, a decreased proliferating zone with round chondrocytes in the face, and scarce matrices	Schneckenbecken dysplasia	610804	Hiraoka et al. (2007)
	Slc35d1	NM_177732		Schneckenbecken dysplasia	269250	Hiraoka et al. (2007)
UDP 5′-diphosphatase	Cant1	NM_001025617	A moderate kyphosis, decrease in both length and width of tibiae, femurs, and ilium, delta phalanx, and a defect in endochondral ossification	Desbuquois dysplasia 1	617719	Paganini et al. (2019), Kodama et al. (2020)
		NM_001025618		Epiphyseal dysplasia multiple 7	251450
		NM_001267591		Pseudodiastrophic dysplasia	613165
		NM_001267592			264180
		NM_029502
3′-phosphoadenosine 5′-phosphate 3′-phosphatase	Bpnt2/Impad1	NM_177730	Either neonatal or embryonic lethality, reductions of limb length, shortening of the snout and lower limbs, and reduced sternal length	Chondrodysplasia with joint dislocations GRAPP type	614078	Frederick et al. (2008)
3′-phosphoadenosine 5′-phosphate 3′-phosphatase	Bpnt2/Impad1	NM_177730		Chondrodysplasia with joint dislocations GRAPP type	614010	Frederick et al. (2008)
Golgin, Rab6-interacting protein	Gorab	NM_001313738	Neonatal lethal. Abnormal collagen fibrils, thinned and porous cortical bone, and spontaneous fractures	Geroderma osteodysplasticum	607983	Chan et al. (2018)
Golgin, Rab6-interacting protein	Gorab	NM_178883		Geroderma osteodysplasticum	231070	Chan et al. (2018)

Cant1, calcium activated nucleotidase 1; Bpnt2, 3′(2′), 5′-bisphosphate nucleotidase 2; Impad1, inositol monophosphatase domain-containing protein 1; GRAPP, Golgi-resident phosphoadenosine phosphate phosphatase; MIM, mendelian inheritance in man.