KIF1BP

KIF1 binding protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]

From UniProt:

Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.

From NCBI Gene:

  • Goldberg-Shprintzen megacolon syndrome

From UniProt:

Goldberg-Shprintzen syndrome (GOSHS): A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease. [MIM:609460]

Cytogenetic Location: 10q22.1, which is the long (q) arm of chromosome 10 at position 22.1

Molecular Location: base pairs 68,988,721 to 69,016,983 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q22.1, which is the long (q) arm of chromosome 10 at position 22.1
  • KBP
  • KIAA1279
  • TTC20