ABCB6
ATP binding cassette subfamily B member 6 (LAN blood group)
- Ensembl:
- ENSG00000115657
- UniProt:
- Q9NP58
- OMIM:
- 605452
- Synonyms:
- EST45597, MTABC3, UMAT
Cilia effects upon perturbation of ABCB6
Ciliogenesis screen results (5 screens)
- Kim2016: No effect
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-14.02) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.12, ciliated=53.9%) PMID:26595381
- Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=3.14) PMID:20393562
Phenotypes
- Mouse phenotype:
- abnormal vibrissa morphology
- Human ciliopathy phenotype:
- microphthalmia, isolated, with coloboma 7
Subcellular localization
basal body, flagella, lysosomes, mitochondria
Functional category
- Ciliary assembly/disassembly
- Metabolism
Function
ABCB6 has localized in basal body,flagella.