DISEASES

Disease-gene associations mined from literature

Literature associating SLC35D1 and achondrogenesis

SLC35D1 [ENSP00000235345]

Solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1; Transports both UDP-glucuronic acid (UDP-GlcA) and UDP- N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm into the endoplasmic reticulum lumen. Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity); Solute carriers

Synonyms:  SLC35D1,  SLC35D1p,  hSLC35D1,  Q9NTN3,  KIAA0260 ...

Linkouts:  STRING  Pharos  UniProt  OMIM