Growth regulation by estrogen in breast cancer 1-like protein (GREB1L)

Growth regulation by estrogen in breast cancer 1-like protein (GREB1L) is a large (1923 amino acids) protein encoded by the GREB1L gene on human chromosome 18. Although formally named for its sequence similarity to GREB1 (a known estrogen receptor coactivator), GREB1L’s precise molecular function is not fully elucidated. It plays a key role in early organ development, particularly in the metanephros (the embryonic kidney), genital tract, and inner ear, where it modulates pathways critical for morphogenesis and neurogenesis[1][2][3][6]. GREB1L mutations are strongly associated with congenital malformations—most notably, autosomal dominant nonsyndromic hearing impairment, severe inner ear and cochlear malformations, and renal agenesis/hypodysplasia[1][2]. Loss-of-function variants likely disrupt developmental gene regulation, impacting neural crest and urogenital system derivatives. GREB1L does not directly function as a classic drug target or therapeutic receptor, but genetic testing for its variants has clinical utility in the diagnosis and genetic counseling of congenital hearing loss and kidney anomalies[1][2]. No approved drugs target GREB1L, and its misregulation is not currently exploited in therapy development. However, it is emerging as a predictive biomarker for developmental disorders, especially in auditory and renal phenotypes[1][2][4][6].

Other names

GREB1-like proteinC18orf6KIAA1772FLJ13687DFNA80RHDA3growth regulation by estrogen in breast cancer 1 likegrowth regulation by estrogen in breast cancer 1-like proteingrowth regulation by estrogen in breast cancer-like

Not applicable (no known drugs target this protein)