Primary Identifier | MGI:1354958 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 50785 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables heparan sulfate 6-O-sulfotransferase activity. Involved in heparan sulfate proteoglycan biosynthetic process. Acts upstream of or within blood vessel development; heparan sulfate proteoglycan biosynthetic process, enzymatic modification; and lung alveolus development. Is active in Golgi apparatus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Human ortholog(s) of this gene implicated in hypogonadotropic hypogonadism 15 with or without anosmia. Orthologous to human HS6ST1 (heparan sulfate 6-O-sulfotransferase 1). PHENOTYPE: Mice homozygous for a null allele show prenatal loss, stunted growth, dilated alveoli and lower postweaning survival. Homozygotes for another null allele show additional defects in placenta, eye, phalanx and tarsus morphology. Homozygotes for a gene trapallele show altered retinal axon guidance. [provided by MGI curators] |