Defective SLC35D1 does not transport UDP-GlcA, UDPGlcNAc

Stable Identifier
Reaction [transition]
Homo sapiens
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The UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter (SLC35D1) transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytosol into the ER lumen across the ER membrane. Defects in SLC35D1 can cause Schneckenbecken dysplasia (SCHBCKD; MIM:269250), a rare, autosomal recessive, lethal short-limbed skeletal dysplasia. Mutations that can cause SCHBCKD include K42Sfs*10, W311*, R107* and T65P (Hiraoka et al. 2007, Furuichi et al. 2009).

Literature References
PubMed ID Title Journal Year
17952091 Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

Nikkels, PG, Hiraoka, S, Yanagishita, M, Cohn, DH, Superti-Furga, A, Katsuyama, K, Isono, K, Kinoshita-Toyoda, A, Rimoin, DL, Furuichi, T, Shibata, S, Toyoda, H, Koseki, H, Ishida, N, Ikegawa, S, Nishimura, G, Ogawa, M, Sanai, Y

Nat. Med. 2007
19508970 Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

Hiraoka, S, Alanay, Y, Koseki, H, Lerena, JC, Furuichi, T, Unger, S, Kayserili, H, Cohn, DH, Aslanger, AD, Superti-Furga, A, Ohashi, H, Nishimura, G, Ikegawa, S

J. Med. Genet. 2009
Catalyst Activity

UDP-glucuronic acid transmembrane transporter activity of SLC35D1 mutants [endoplasmic reticulum membrane]

Normal reaction
Functional status

Loss of function of SLC35D1 mutants [endoplasmic reticulum membrane]

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