Property Summary

NCBI Gene PubMed Count 18
Grant Count 3
R01 Count 3
Funding $142,226.11
PubMed Score 15.53
PubTator Score 7.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma -1.568 0.000
posterior fossa group B ependymoma 2.100 0.000
medulloblastoma -1.100 0.000
medulloblastoma, large-cell -1.100 0.006
colon cancer 1.100 0.010
nasopharyngeal carcinoma -1.300 0.000
chronic rhinosinusitis -1.359 0.024
cystic fibrosis and chronic rhinosinusit... -1.182 0.036

Synonym

Accession Q86X45 Q13648 Q4G183
Symbols LRTP
TSLRP
CILD19

Gene

PANTHER Protein Class (1)

Gene RIF (3)

PMID Text
23891469 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23527195 LRRC6 plays a role in dynein arm assembly or trafficking and when mutated leads to primary ciliary dyskinesia with laterality defects.
23122589 Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

AA Sequence

MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEY      1 - 70
LNLALNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLP     71 - 140
QLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRW    141 - 210
YTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE    211 - 280
KKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPF    281 - 350
QLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDP    351 - 420
SKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI                            421 - 466
//

Publication (17)

PMID Year Title
26228299 2016 An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.
25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
24432614 2013 [Molecular genetic mechanisms of teratozoospermia].
23891471 2013 Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23527195 2013 LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.
23122589 2012 Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
23122586 2012 Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
20215474 2010 Hearing in Drosophila requires TilB, a conserved protein associated with ciliary motility.
19395640 2009 Mutations in zebrafish leucine-rich repeat-containing six-like affect cilia motility and result in pronephric cysts, but have variable effects on left-right patterning.
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