The LTBP4 gene homepage

General information
Gene symbol LTBP4
Gene name latent transforming growth factor beta binding protein 4
Chromosome 19
Chromosomal band q13.1-q13.2
Imprinted Unknown
Genomic reference NG_021201.1
Transcript reference NM_003573.2
Exon/intron information NM_003573.2 exon/intron table
Associated with diseases ARCL1C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 61
Unique public DNA variants reported 51
Individuals with public variants 275
Hidden variants 12
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated September 17, 2021
Version LTBP4:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_003573.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 6717
Entrez Gene 8425
PubMed articles LTBP4
OMIM - Gene 604710
OMIM - Diseases ARCL1C (cutis laxa, autosomal recessive, type IC (ARCL-1C))
GeneCards LTBP4
GeneTests LTBP4
Orphanet LTBP4

Active transcripts




NCBI ID     

NCBI Protein ID     

00011554 19 transcript variant 2 NM_003573.2 NP_003564.2 61

Copyright & disclaimer
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