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IFT140

IFT140

Protein-coding gene in the species Homo sapiens

IFT140, Intraflagellar transport 140 homolog, is a protein that in humans is encoded by the IFT140 gene. The gene product forms a core component of IFT-A

IFT140

Asphyxiating thoracic dysplasia

Rare genetic disorder

problems. Several mutations in different genes such as IFT80, DYNC2H1, WDR19, IFT140 and TTC21B have been identified in some families with the condition as possible

Asphyxiating thoracic dysplasia

Asphyxiating_thoracic_dysplasia

Leber congenital amaurosis

Rare inherited eye disease

light into electrical signals for the brain); ALMS1, CCT2, CEP290, CLUAP1, IFT140, IQCB1, LCA5, MYO7A, RD3, RPGRIP1, SPATA7, and TULP1 in maintaining the

Leber congenital amaurosis

Leber_congenital_amaurosis

Retinitis pigmentosa

Gradual retinal degeneration leading to progressive sight loss

ARHGEF18 Retinitis pigmentosa-78 617460 HK1 Retinitis pigmentosa-79 617781 IFT140 Retinitis pigmentosa-80 617871 IFT43 Retinitis pigmentosa-81 615434 ARL2BP

Retinitis pigmentosa

Retinitis_pigmentosa

Intraflagellar transport

Cellular process

named according to their molecular weights: complex A contains IFT144, IFT140, IFT139, IFT122, IFT121 and IFT43 complex B contains IFT172, IFT88, IFT81

Intraflagellar transport

Intraflagellar_transport

Organoid

Miniaturized and simplified version of an organ

to compound heterozygous mutations in IFT140 were compared to an isogenic control organoid in which an IFT140 variant giving rise to a non-viable mRNA

Organoid

Ciliopathy

Genetic disease resulting in abnormal formation or function of cilia

Asphyxiating thoracic dysplasia (Jeune syndrome) 208500 DYNC2H1, IFT80, IFT139, IFT140, IFT144, WDR35 Bardet–Biedl syndrome 209900 ARL6, BBS1, BBS2, BBS4, BBS5

Ciliopathy

WD40 repeat

Short protein motif that forms a solenoid domain

GNB2L1, GNB3, GNB4, GNB5, GRWD1, GTF3C2, HERC1, HIRA, HZGJ, IFT121, IFT122, IFT140, IFT172, IFT80, IQWD1, KATNB1, KIAA1336, KIF21A, KIF21B, KM-PA-2, KEAP1

WD40 repeat

WD40_repeat

List of human protein-coding genes 4

Q8WYA0 7493 IFT88 HGNC:20606; Q13099 7494 IFT122 HGNC:13556; Q9HBG6 7495 IFT140 HGNC:29077; Q96RY7 7496 IFT172 HGNC:30391; Q9UG01 7497 IFTAP HGNC:25142;

List of human protein-coding genes 4

List_of_human_protein-coding_genes_4

Tetratricopeptide repeat

Protein tandem repeat

FKBP8, FKBPL GPSM1, GPSM2, GTF3C3 IFIT1, IFIT1L, IFIT2, IFIT3, IFIT5, IFT140, IFT88 KLC1, KLC2, KLC3, KLC4, KNS2 LONRF2 NARG1, NARG1L, NASP, NCF2, NFKBIL2

Tetratricopeptide repeat