TUBGCP6 gene

tubulin gamma complex associated protein 6

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

From NCBI Gene:

The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]

From UniProt:

Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.

From NCBI Gene:

  • Microcephaly with chorioretinopathy, autosomal recessive

From UniProt:

Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1): A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life. [MIM:251270]

Cytogenetic Location: 22q13.31-q13.33, which is the long (q) arm of chromosome 22 between positions 13.31 and 13.33

Molecular Location: base pairs 50,217,689 to 50,245,024 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q13.31-q13.33, which is the long (q) arm of chromosome 22 between positions 13.31 and 13.33
  • GCP-6
  • GCP6
  • MCCRP
  • MCCRP1
  • MCPHCR