NUBP1

• SHARE NOW |
• Tweet Opens in a new window.
• Pin it Opens in a new window.
• Share Opens in a new window.
• Share Opens in a new window.
• Email Opens in a new window.

---

Description

The NUBP1 (NUBP iron-sulfur cluster assembly factor 1, cytosolic) is a protein-coding gene located on chromosome 16.

NUBP1 is a component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery, essential for the maturation of extramitochondrial Fe-S proteins. NUBP1 forms a heterotetramer with NUBP2, creating a Fe-S scaffold complex that facilitates the de novo assembly of an Fe-S cluster and its transfer to target apoproteins. NUBP1 is also implicated in the regulation of centrosome duplication and acts as a negative regulator of cilium formation and structure.

NUBP1 is also known as CIAO5, NBP, NBP1, NBP35.

Associated Diseases

• syndactyly type 1
• syndactyly type 4
• syndactyly type 3
• syndactyly type 5
• mesoaxial synostotic syndactyly with phalangeal reduction
• polysyndactyly 4
• brachydactyly-syndactyly syndrome
• brachydactyly type A2
• synpolydactyly type 1
• polydactyly of a triphalangeal thumb
• brachydactyly type A7
• triphalangeal thumb-polysyndactyly syndrome
• split-foot malformation-mesoaxial polydactyly syndrome
• ectrodactyly-polydactyly syndrome
• symphalangism with multiple anomalies of hands and feet
• brachydactyly-elbow wrist dysplasia syndrome