Zinc Finger Transcription Factor TRPS1

Alternative Names

TRPS1
TRPS1 Gene

Length

401,178 bases

No. of Exons

No. of isoforms

Protein Name

Zinc finger transcription factor Trps1

Molecular Mass

141521 Da

Amino Acid Count

1281

Genomic Location

chr8:115,408,496-115,809,673

Gene Map Locus

8q23.3

Description

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_014112.5:c.933G>C	Lebanon	chr8:115619165		Likely Pathogenic	Heterotaxy, Visceral, 1, X-Linked	NG_012383.3:g.54837G>C; NM_014112.5:c.933G>C; NP_054831.2:p.Arg311Ser	886043713

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External Links

https://ghr.nlm.nih.gov/gene/TRPS1 https://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPS1 https://www.ncbi.nlm.nih.gov/gene/7227

Contributors

Pratibha Nair: 27.05.2020

Edit History

Pratibha Nair: 27.05.2020

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