EPS8L3

This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

Eps8 Like 3

Positive regulation of ruffle assembly Source: GO_Central
Regulation of catalytic activity Source: GOC
Regulation of hair cycle Source: UniProtKB
Regulation of Rho protein signal transduction Source: GO_Central
Rho protein signal transduction Source: GO_Central

Cytoplasm

Hypotrichosis 5 (HYPT5):
A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT5 is an autosomal dominant form characterized by little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal.