Clinical significance
CADASIL, an identified autosomal dominant condition characterized by the recurrence of subcortical infarcts leading to dementia, was previously mapped to “ILVBL” gene within a 2-cM interval, D19S226–D19S199. This gene encodes a protein highly similar to the acetolactate synthase of other organisms. No recombination event was observed with D19S841, a highly polymorphic microsatellite marker isolated from a cosmid mapped to this region. No mutation was detected on this gene in CADASIL patients, suggesting that it is not implicated in this disorder.[6]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000105135 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032763 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 3 "UniProt A1L0T0". UniProt.
- 1 2 Joutel A, Ducros A, Alamowitch S, Cruaud C, Domenga V, Maréchal E, Vahedi K, Chabriat H, Bousser MG, Tournier-Lasserve E (December 1996). "A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region". Genomics. 38 (2): 192–8. doi:10.1006/geno.1996.0615. PMID 8954801.
- ↑ "Entrez Gene:ILVBL ilvB (bacterial acetolactate synthase)-like".
