BMP-4 rabbit pAb - 100 μL

Disease: Defects in BMP4 are the cause of microphthalmia syndromic type 6 (MCOPS6) [MIM: 607932]; also known as microphthalmia and pituitary anomalies or microphthalmia with brain and digit developmental anomalies. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS6 is characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. function: Induces cartilage and bone formation. Also act in mesoderm induction, tooth development, limb formation and fracture repair. online information: Bone morphogenetic protein 4 entry, similarity: Belongs to the TGF-beta family. subunit: Homodimer; disulfide-linked (By similarity). Interacts with GREM2 (By similarity) and SOSTDC1. Part of a complex consisting of TWSG1 and CHRD. tissue specificity: Expressed in the lung and lower levels seen in the kidney. Present also in normal and neoplastic prostate tissues, and prostate cancer cell lines.