ALDH16A1
| Aldehyde dehydrogenase 16 family, member A1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | ALDH16A1 ; MGC10204 | ||||||||||||
| External IDs | OMIM: 613358 MGI: 1916998 HomoloGene: 34938 GeneCards: ALDH16A1 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 126133 | 69748 | |||||||||||
| Ensembl | ENSG00000161618 | ENSMUSG00000007833 | |||||||||||
| UniProt | Q8IZ83 | Q571I9 | |||||||||||
| RefSeq (mRNA) | NM_001145396 | NM_145954 | |||||||||||
| RefSeq (protein) | NP_001138868 | NP_666066 | |||||||||||
| Location (UCSC) |
Chr 19: 49.45 – 49.47 Mb |
Chr 7: 45.14 – 45.15 Mb | |||||||||||
| PubMed search | |||||||||||||
Aldehyde dehydrogenase 16 family, member A1 also known as ALDH16A1 is an aldehyde dehydrogenase gene.
Clinical significance
Mutations in the SPG21 (ACP33/maspardin) gene are associated with the mast syndrome, a type of spastic paraplegia. The protein encoded by the SPG21 gene has been shown to interact with the ALDH16A1 enzyme.[1]
References
- ↑ Hanna MC, Blackstone C (January 2009). "Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1". Neurogenetics 10 (3): 217–28. doi:10.1007/s10048-009-0172-6. PMID 19184135.
Further reading
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Yu W, Andersson B, Worley KC; et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
- Andersson B, Wentland MA, Ricafrente JY; et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Sowa ME, Bennett EJ, Gygi SP, Harper JW (2009). "Defining the human deubiquitinating enzyme interaction landscape.". Cell 138 (2): 389–403. doi:10.1016/j.cell.2009.04.042. PMC 2716422. PMID 19615732.
- Ewing RM, Chu P, Elisma F; et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry.". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
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