Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

Table 4

Biosynthetic enzymes of HS and heparin chains.

Enzymes; (activity)	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
Exostosin; (GlcA and GlcNAc transferases)	EXT1	8q24.11	NM_000127	133700; 215300; 608177	Exostoses multiple type 1 Chondrosarcoma	The formation of cartilage-capped tumors (exostoses) that develop from the growth plate of endochondral bones, especially of long bones.	[118]	[119–135]
	EXT2	11p12-p11	NM_000401	133701; 608210	Exostoses multiple type 2	Same as above.	[118]	[136]
Exostosin-like 2; (GlcNAc transferase-I)	EXTL2	1p21	NM_001439	602411	—	—	—	[137, 138]
Exostosin-like 1; (GlcNAc transferase-II)	EXTL1	1p36.1	NM_004455	601738	—	—	—	—
Exostosin-like 3; (GlcNAc transferase-I and -II)	EXTL3	8p21	NM_001440	605744	—	—	—	[139]
GlcNAc N-deacetylase and; N-sulfotransferase	NDST1	5q33.1	NM_001543	600858	—	—	—	[140–164]
	NDST2	10q22	NM_003635	603268	—	—	—	[165–167]
	NDST3	4q26	NM_004784	603950	—	—	—	[168]
	NDST4	4q26	NM_022569	615039	—	—	—	—
HS GlcUA C5-epimerase	GLCE	15q23	NM_015554	612134	—	—	—	[169–172]
HS 2-O-sulfotransferase	HS2ST1	1p22.3	NM_012262	604844	—	—	—	[153, 162, 173–179]
HS 6-O-sulfotransferase	HS6ST1	2q21	NM_004807	614880; 604846	Hypogonadotropic hypogonadism 15 with or without anosmia	Lack of sexual maturation and low levels of circulating gonadotropins and testosterone.	[180]	[177, 178, 181, 182]
	HS6ST2	Xq26.2	NM_147174; NM_147175	300545	—	—	—	[182, 183]
	HS6ST-3	13q32.1	NM_153456	609401	—	—	—	—
HS 3-O-sulfotransferase	HS3ST1	4p16	NM_005114	603244	—	—	—	[184]
	HS3ST2	16p12	NM_006043	604056	—	—	—	—
	HS3ST3A1 HS3ST3B1	17p12	NM_006042; NM_006041	604057; 604058	—	—	—	—
	HS3ST4	16p11.2	NM_006040	604059	—	—	—	—
	HS3ST5	6q22.31	NM_153612	609047	—	—	—	—
	HS3ST6	16p13.3	NM_001009606	—	—	—	—	—
HS 6-O-endosulfatase	SULF1	8q13.2-q13.3	NM_015170	610012	—	—	—	[185–191]
	SULF2	20q12–q13.2	NM_018837; NM_198596	610013	—	—	—	[185–192]

—: not reported.