Identity
HGNC
LOCATION
7q36.3
LOCUSID
ALIAS
ACHP,C7orf2,DIF14,LSS,PPD2,THYP,TPT,ZRS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 64327
MIM: 605522
HGNC: 13243
Ensembl: ENSG00000105983
Variants:
dbSNP: 64327
ClinVar: 64327
TCGA: ENSG00000105983
COSMIC: LMBR1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31395945 | 2020 | A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. | 10 |
| 32179704 | 2020 | Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes. | 3 |
| 32662247 | 2020 | Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome. | 5 |
| 31395945 | 2020 | A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. | 10 |
| 32179704 | 2020 | Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes. | 3 |
| 32662247 | 2020 | Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome. | 5 |
| 26749485 | 2016 | Novel copy number variants and major limb reduction malformation: Report of three cases. | 2 |
| 26749485 | 2016 | Novel copy number variants and major limb reduction malformation: Report of three cases. | 2 |
| 24478176 | 2014 | A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. | 8 |
| 24777739 | 2014 | A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. | 15 |
| 24478176 | 2014 | A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. | 8 |
| 24777739 | 2014 | A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. | 15 |
| 23793141 | 2013 | Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature. | 7 |
| 23793141 | 2013 | Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature. | 7 |
| 22495965 | 2012 | A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. | 19 |
Citation
Dessen P
LMBR1 (limb development membrane protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/66133/lmbr1-(limb-development-membrane-protein-1)
