Intraflagellar Transport 172

Alternative Names

IFT172
Intraflagellar Transport 172, Chlamydomonas, Homolog Of
Selective Lim-Binding Factor, Rat, Homolog Of
SLB
KIAA1179

Length

45,447 bases

No. of Exons

No. of isoforms

Protein Name

Intraflagellar transport protein 172 homolog

Molecular Mass

197576 Da

Amino Acid Count

1749

Genomic Location

chr2:27,444,372-27,489,818

Gene Map Locus

2p23.3

Description

This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_015662.3:c.4630C>T	Saudi Arabia	NC_000002.12:g.27447544G>A	Pathogenic	Likely Pathogenic	Short-Rib Thoracic Dysplasia 9 with or without Polydactyly	NG_034068.1:g.47268C>T; NM_015662.3:c.4630C>T; NP_056477.1:p.Arg1544Cys	587777079	97024

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ift172

Contributors

Asha Deepthi: 27.12.2021

Edit History

Asha Deepthi: 27.12.2021

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