IFT27 gene

intraflagellar transport 27

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

From NCBI Gene:

This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

From UniProt:

Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6 (PubMed:25443296). Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25.

From NCBI Gene:

  • Bardet-Biedl syndrome 19

From UniProt:

Bardet-Biedl syndrome 19 (BBS19): A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. [MIM:615996]

Cytogenetic Location: 22q13.1, which is the long (q) arm of chromosome 22 at position 13.1

Molecular Location: base pairs 36,758,202 to 36,776,133 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q13.1, which is the long (q) arm of chromosome 22 at position 13.1
  • BBS19
  • RABL4
  • RAYL