|
Gene id |
5048 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PAFAH1B1 Gene UCSC Ensembl |
|
Aliases |
LIS1, LIS2, MDCR, MDS, NudF, PAFAH |
|
Gene name |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
|
Alternate names |
platelet-activating factor acetylhydrolase IB subunit alpha, lissencephaly 1 protein, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa), platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD), platelet-activatin, |
|
Gene location |
17p13.3 (2593209: 2685616) Exons: 16 NC_000004.12
|
|
Gene summary(Entrez) |
This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating
|
|
OMIM |
601545 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
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|
|
|
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| Associated diseases |
References |
| Atherosclerosis | GAD: 16689754 |
| Cardiomyopathy | GAD: 11501940 |
| Coronary heart disease | GAD: 11036120 |
| Cleft defects | GAD: 20634891 |
| Glaucoma | GAD: 16411107 |
| Atopy | GAD: 10733466 |
| Asthma | GAD: 10194471 |
| Multiple sclerosis | GAD: 15081260 |
| Lissencephaly | KEGG: H00268 |
| Alzheimer's disease | GAD: 20464283 |
| Schizophrenia | GAD: 19251251 |
| Associated with spermatogenesis | MIK: 12775763 |
| Spermatogenesis defects | MIK: 26380866 |
| Associated with spermatogenesis | MIK: 13129914 |
| Hypospermatogenesis | MIK: 28361989 |
| Role in human spermatogenesis | MIK: 26380866 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 13129914 |
Associated
with sper
matogenesi
s
|
|
|
|
Male infertility |
|
Show abstract |
| 26380866 |
Role in hu
man sperma
togenesis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28361989 |
Hyposperma
togenesis
|
|
|
6 (3 controls,
3 Klienfelter s
yndrome
|
Male infertility |
Microarray
|
Show abstract |
|