ANKIB1

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Description

The ANKIB1 (ankyrin repeat and IBR domain containing 1) is a protein-coding gene located on chromosome 7.

ANKIB1 might act as an E3 ubiquitin-protein ligase, either independently or as part of a larger E3 complex. This means it can receive ubiquitin from specific E2 ubiquitin-conjugating enzymes and then attach it to other proteins (substrates).

ANKIB1 is also known as -.

Associated Diseases

• cerebral cavernous malformation
• angiokeratoma corporis diffusum with arteriovenous fistulas
• diabetes mellitus, permanent neonatal 4
• acheiropody
• diabetes mellitus, transient neonatal, 3
• acromesomelic dysplasia 2C, Hunter-Thompson type
• permanent neonatal diabetes mellitus 1
• acromesomelic dysplasia 2A
• tibia, hypoplasia or aplasia of, with polydactyly
• hypoparathyroidism, familial isolated, 2
• Blount disease
• Fuhrmann syndrome
• syndactyly type 4
• laurin-Sandrow syndrome
• Osebold-Remondini syndrome
• spondyloepimetaphyseal dysplasia, Missouri type
• acromesomelic dysplasia 2B
• chromosome 17P13.3, telomeric, duplication syndrome