IFT52 gene

intraflagellar transport 52

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

From NCBI Gene:

This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]

From UniProt:

Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190).

From NCBI Gene:

  • Short-rib thoracic dysplasia 16 with or without polydactyly

From UniProt:

Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16): A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. [MIM:617102]

Cytogenetic Location: 20q13.12, which is the long (q) arm of chromosome 20 at position 13.12

Molecular Location: base pairs 43,590,613 to 43,647,296 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.12, which is the long (q) arm of chromosome 20 at position 13.12
  • C20orf9
  • CGI-53
  • NGD2
  • NGD5