DISEASES

Disease-gene associations mined from literature

Literature associating BMP8A and Leber congenital amaurosis 17

BMP8A [ENSP00000327440]

Bone morphogenetic protein 8A; Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity). Signaling protein involved in regulation of thermogenesis and energy balance. Proposed to increase the peripheral response of brown adipose tissue (BAT) to adrenergic stimulation while acting centrally in the hypothalamus to increase sympathetic output to BAT.

Synonyms:  BMP8A,  BMP8Ap,  hBMP8A,  Q7Z5Y6,  Q7Z5Y6p ...

Linkouts:  STRING  Pharos  UniProt