TUBA8 |
Gene Facts External Data Attribution
- HGNC Symbol
- TUBA8 (HGNC:12410) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tubulin alpha 8
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- TUBAL2
- Alias symbols
- No aliases found
- %HI
- 42.62(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.1(Read more about gnomAD LOEUF score)
- Cytoband
- 22q11.21
- Genomic Coordinates
-
GRCh37/hg19: chr22:18593575-18614499 NCBI Ensembl UCSC GRCh38/hg38: chr22:18110809-18131732 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018943.3 ENST00000330423.8 (Read more about MANE Select)
- Function
- Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-23086
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000022.10)
(NC_000022.11)