Gene: IFT140
Alternate names for this Gene: MZSDS|RP80|SRTD9|WDTC2|c305C8.4|c380F5.1|gs114
Gene Summary: This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease.
Gene is located in Chromosome: 16
Location in Chromosome : 16p13.3
Description of this Gene: intraflagellar transport 140
Type of Gene: protein-coding
rs779007169 in
IFT140 gene and
Infertility
PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
rs199826737 in
IFT140 gene and
Mainzer-Saldino Disease
PMID 23418020 2013 Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
PMID 28288023 2017 The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.
PMID 28724397 2017 Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
PMID 22503633 2012 Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
PMID 24009529 2013 Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
rs145549969 in
IFT140 gene and
RETINITIS PIGMENTOSA 80
PMID 26968735 2016 Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
PMID 26216056 2015 Mutations in human IFT140 cause non-syndromic retinal degeneration.
PMID 26359340 2016 The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
rs779007169 in
IFT140 gene and
Retinitis Pigmentosa
PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.