Defective SLC35D1 does not transport UDP-GlcA, UDPGlcNAc

Stable Identifier
R-HSA-5603297
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
19508970 Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

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

J. Med. Genet. 2009
17952091 Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

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

Nat. Med. 2007
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
UDP-glucuronic acid transmembrane transporter activity of SLC35D1 mutants [endoplasmic reticulum membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
schneckenbecken dysplasia 0050775
Authored
Reviewed
Created
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