ANKS4B

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Description

The ANKS4B (ankyrin repeat and sterile alpha motif domain containing 4B) is a protein-coding gene located on chromosome 16.

Ankyrin repeat and sterile alpha motif domain containing 4B is a protein that in humans is encoded by the ANKS4B gene. The gene is also known as HARP (Harmonin-interacting, ankyrin repeat-containing protein). Ankyrin repeats mediate protein-protein interactions in very diverse families of proteins.

ANK4SB plays a crucial role in epithelial brush border differentiation by influencing microvilli organization and length as part of the intermicrovillar adhesion complex (IMAC). It contributes to the assembly of the IMAC and may participate in the cellular response to endoplasmic reticulum stress.

ANKS4B is also known as HARP.

Associated Diseases

• dentin dysplasia type I
• dentin dysplasia type II
• amelogenesis imperfecta
• dentinogenesis imperfecta type 3
• trichodysplasia-amelogenesis imperfecta syndrome
• amelogenesis imperfecta, type 3A
• amelogenesis imperfecta type 3B
• amelogenesis imperfecta hypomaturation type 2A4
• hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
• primary failure of tooth eruption
• Zika virus infectious disease
• fused mandibular incisors
• tooth agenesis, selective, 7
• otodental syndrome
• peroxisome biogenesis disorder
• pili torti
• amelogenesis imperfecta, IIa 1K