Gene: KY

Alternate names for this Gene: MFM7

Gene Summary: The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.2

Description of this Gene: kyphoscoliosis peptidase

Type of Gene: protein-coding

Gene: CEP63

Alternate names for this Gene: SCKL6

Gene Summary: This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.2

Description of this Gene: centrosomal protein 63

Type of Gene: protein-coding

Gene: EPHB1

Alternate names for this Gene: ELK|EPHT2|Hek6|NET

Gene Summary: Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.2

Description of this Gene: EPH receptor B1

Type of Gene: protein-coding