TLL1

TLL1
Identifiers
AliasesTLL1, ASD6, TLL, tolloid like 1
External IDsOMIM: 606742; MGI: 106923; GeneCards: TLL1
Available structures
PDBOrtholog search: PDBe RCSB
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

7092

21892

Ensembl

ENSG00000038295

ENSMUSG00000053626

UniProt

O43897

Q62381

RefSeq (mRNA)

NM_001204760
NM_012464

NM_009390

RefSeq (protein)

NP_001191689
NP_036596

NP_033416

Location (UCSC)Chr 4: 165.87 – 166.1 MbChr 8: 64.47 – 64.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tolloid-like protein 1 is a protein that in humans is encoded by the TLL1 gene.[5][6]

This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. A similar protein in mice is required during heart development and specifically processes procollagen C-propeptides and chordin at similar cleavage sites.[6]

In clinical context, TLL1 was mostly associated with atrial septal defect in an autosomal dominant mode of inheritance of loss-of-function mutations.[7] However, functional studies have also linked its gain-of-function with mitral valve prolapse.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000038295 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053626 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Scott IC, Clark TG, Takahara K, Hoffman GG, Eddy RL, Haley LL, et al. (October 1999). "Assignment of TLL1 and TLL2, which encode human BMP-1/Tolloid-related metalloproteases, to chromosomes 4q32→q33 and 10q23→q24 and assignment of murine Tll2 to chromosome 19". Cytogenetics and Cell Genetics. 86 (1): 64–65. doi:10.1159/000015412. PMID 10516436. S2CID 42081614.
  6. ^ a b "Entrez Gene: TLL1 tolloid-like 1".
  7. ^ Sieron L, Lesiak M, Schisler I, Drzazga Z, Fertala A, Sieron AL (January 2019). "Functional and structural studies of tolloid-like 1 mutants associated with atrial-septal defect 6". Bioscience Reports. 39 (1) BSR20180270. doi:10.1042/BSR20180270. PMC 6328869. PMID 30538173.
  8. ^ Agam N, Dolgin V, Star A, Freund O, Jean MM, Safran A, et al. (May 2025). "Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation". The Canadian Journal of Cardiology. 41 (5): 928–935. doi:10.1016/j.cjca.2025.01.018. PMID 39880331.

Further reading

Stub icon

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by adding missing information.

Content Disclaimer

Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.

  1. The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
  2. There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
  3. It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
  4. Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
  5. Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.