|
Gene id |
7846 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TUBA1A Gene UCSC Ensembl |
|
Aliases |
B-ALPHA-1, LIS3, TUBA3 |
|
Gene name |
tubulin alpha 1a |
|
Alternate names |
tubulin alpha-1A chain, hum-a-tub1, hum-a-tub2, tubulin B-alpha-1, tubulin alpha-3 chain, tubulin, alpha, brain-specific, |
|
Gene location |
12q13.12 (49189323: 49184794) Exons: 4 NC_000012.12
|
|
Gene summary(Entrez) |
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six
|
|
OMIM |
602529 |
|
| Associated diseases |
References |
| Lissencephaly | KEGG: H00268 |
| Epididymitis | MIK: 24726218 |
| Hypospermatogenesis | MIK: 28361989 |
| Male infertility | MIK: 3285991 |
| Spermatogenic defects | MIK: 3285991 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 3285991 |
Male infer
tility, sp
ermatozoa
structure
|
|
|
|
Male infertility |
|
Show abstract |
| 28361989 |
Hyposperma
togenesis
|
|
|
6 (3 controls,
3 Klienfelter s
yndrome
|
Male infertility |
Microarray
|
Show abstract |
|