TUBGCP6 gene

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:

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: 22q13.33, which is the long (q) arm of chromosome 22 at position 13.33

Molecular Location: base pairs 50,217,689 to 50,245,028 on chromosome 22 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

• GCP-6
• GCP6
• MCCRP
• MCCRP1
• MCPHCR