Harmonizome 3.0

lethal giant larvae homolog 2 (Drosophila)

The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

lethal giant larvae homolog 1 (Drosophila)

This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

Charcot-Marie-Tooth disease, axonal, type 2H

Charcot-Marie-Tooth disease, axonal, type 2G

contactin 2 (axonal)

This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]

Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)

Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive)

Hereditary motor and sensory neuropathy V

Neuropathy, hereditary motor and sensory, Russe type

spastic paraplegia, optic atrophy, and neuropathy

auditory neuropathy, X-linked recessive 1

Hereditary sensory neuropathy, type IB

Distal hereditary motor neuropathy, Jerash type

Neuropathy, hereditary motor and sensory, Okinawa type