HEPARAN SULFATE 6-O-SULFOTRANSFERASE 1
- OMIM 604846
- Located at chromosome 2q14.3
- Encodes heparan sulfate 6-O-sulfotransferase 1 that catalyzes the transfer of sulfate from 3-prime-phosphoadenosine 5-prime-phosphosulfate to position 6 of the N-sulfoglucosamine residue of heparan sulfate.
- HS6ST1 comprises 2 exons and the corresponding mRNA (NM_004807.2) encodes a 411 amino acid enzyme.
Mutations in HS6ST1 contribute to Kallmann syndrome presumably through synergistic effects with mutant alleles of other disease-associated genes (Tornberg, Sykiotis et al. 2011).
C. elegans models
- In experiments in C. elegans, Tornberg et al. (2011) observed that heparan sulfate cell-specifically regulates neural branching in vivo in concert with other genes that are mutated in congenital hypogonadotropic hypogonadism (KAL1, FGF8, and FGFR1) (Tornberg, Sykiotis et al. 2011).
- The findings were consistent with a model in which the KAL1-encoded protein acts as a modulatory coligand with FGF to activate the FGF receptor in an heparan sulfate-dependent manner.
Tornberg, J., G. P. Sykiotis, et al. (2011). "Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism." Proc Natl Acad Sci U S A108(28): 11524-11529.