Intraflagellar Transport 140, Chlamydomonas, Homolog of

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OMIM Number

614620

NCBI Gene ID

9742

Uniprot ID

Q96RY7

Length

101,682 bases

No. of Exons

40

No. of isoforms

2

Protein Name

Intraflagellar Transport Protein 140 Homolog

Molecular Mass

165193 Da

Amino Acid Count

1462

Genomic Location

chr16:1,510,426-1,612,071

Gene Map Locus
16p13.3

Description

The IFT140 gene encodes a subunit of intraflagellar transport complex A (IFTA) that is involved in the formation and maintenance of cilia and retrograde ciliary transport.  This intraflagellar transport plays a very important role in the proper functioning of ciliated cells.  It is also required for the proper assembly of these ciliated cells, especially the cells in the retina.

Mutations in the IFT140 gene may change the shape of the IFT140 protein or its interactions with other IFT proteins, likely impairing the assembly of IFT-A and the development or maintenance of cilia.  As a result, fewer cilia may be present or functional, affecting many organs and tissues in the body.  Two different kinds of ciliopathies, Mainzer-Saldino syndrome and Jeune Asphyxiating Thoracic dystrophy, have been linked to mutations in the IFT140 gene.  In addition, variants in the gene have also been associated with certain forms of retinitis pigmentosa and Leber Congenital Amaurosis.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014714.4:c.1525-1G>ASaudi ArabiaNC_000016.10:g.1571535C>TLikely Pathogenic, PathogenicLikely PathogenicShort-Rib Thoracic Dysplasia 9 with or without PolydactylyNG_032783.1:g.45574G>A; NM_014714.4:c.1525-1G>A2034013225974844
NM_014714.4:c.1541_1542delinsAASaudi Arabiachr16:1571517-1571518Likely Benign, Likely PathogenicPathogenicRetinitis Pigmentosa 80NG_032783.1:g.45591_45592delinsAA; NM_014714.4:c.1541_1542delinsAA; NP_055529.2:p.Leu514Gln886043802288071
NM_014714.4:c.1990G>ASaudi Arabiachr16:1564074PathogenicLikely Pathogenic, PathogenicShort-Rib Thoracic Dysplasia 9 with or without Polydactyly; Retinitis Pigmentosa 80NG_032783.1:g.53035G>A; NM_014714.4:c.1990G>A; NP_055529.2:p.Glu664Lys38790719231679
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