v5.1.0.3
Glycine data from LIS
Type | Family |
Description | This family hyccin proteins (HYCC1/2) which are a component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane and it also regulates phosphatidylinositol 4-phosphate (PtdIns4P) synthesis [ ]. HYCC1 plays a key role in oligodendrocytes formation [] which may explain its importance in myelination of the central and peripheral nervous system []. Defects in Hyccin are the cause of hypomyelination with congenital cataracts . This disorder is characterised by congenital cataracts, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailing in the lower limbs [, ]. These proteins may also have a role in the beta-catenin-Tcf/Lef signaling pathway. |
Short Name | Hyccin |