NUBP1
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
