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Details of TUBGCP6 gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| TUBGCP6 | GCP6,KIAA1669 | Q96RT7 | GCP6_HUMAN | 85378 | ENSG00000128159 | Gamma-tubulin complex component 6 | SPROT |
Disease |
Disease |
OMIM id |
Microcephaly and chorioretinopathy with or without mental retardation, autosomal recessive (MCPHCR) [MIM:251270]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. |
251270 |
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Tubgcp6 | --- | --- | Sp-Tubgcp6L |