Enamelin

ENAM
Identifiers
AliasesENAM, ADAI, AI1C, AIH2, enamelin
External IDsMGI: 1333772 HomoloGene: 9698 GeneCards: ENAM
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4q13.3Start70,628,744 bp[1]
End70,686,816 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

10117

13801

Ensembl

ENSG00000132464

ENSMUSG00000029286

UniProt

Q9NRM1

O55196

RefSeq (mRNA)

NM_031889

NM_017468

RefSeq (protein)

NP_114095

NP_059496

Location (UCSC)Chr 4: 70.63 – 70.69 MbChr 5: 88.49 – 88.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Enamelin
Identifiers
Symbol Enamelin
Pfam PF15362

Enamelin is a protein that in humans is encoded by the ENAM gene.[5][6]

Dental enamel is a highly mineralized tissue with 85% of its volume occupied by unusually large, highly organized, hydroxyapatite crystals. This highly organized and unusual structure is thought to be rigorously controlled in ameloblasts through the interaction of a number of organic matrix molecules that include enamelin, amelogenin (AMELX; MIM 300391), ameloblastin (AMBN; MIM 601259), tuftelin (TUFT1; MIM 600087), dentine sialophosphoprotein (DSPP; MIM 125485), and a variety of enzymes. Enamelin is the largest protein in the enamel matrix of developing teeth and comprises approximately 5% of total enamel matrix protein.[supplied by OMIM][6]

Mutations in the ENAM gene can give rise to autosomal dominant Amelogenesis imperfecta,[5][7] indicating a role in Amelogenesis.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000132464 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029286 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 Mardh CK, Backman B, Holmgren G, Hu JC, Simmer JP, Forsman-Semb K (Apr 2002). "A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)". Hum Mol Genet. 11 (9): 1069–74. doi:10.1093/hmg/11.9.1069. PMID 11978766.
  6. 1 2 "Entrez Gene: ENAM enamelin".
  7. ↑ Hu, J. C.; Yamakoshi, Y. (2003). "Enamelin and autosomal-dominant amelogenesis imperfecta". Critical Reviews in Oral Biology and Medicine. 14 (6): 387–398. doi:10.1177/154411130301400602. PMID 14656895.

Further reading

  • Gutierrez SJ, Chaves M, Torres DM, Briceño I (2007). "Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta". Arch. Oral Biol. 52 (5): 503–6. doi:10.1016/j.archoralbio.2006.09.014. PMID 17316551.
  • Pavlic A, Petelin M, Battelino T (2007). "Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG". Arch. Oral Biol. 52 (3): 209–17. doi:10.1016/j.archoralbio.2006.10.010. PMID 17125728.
  • Ballif BA, n J, Villé Beausoleil SA, et al. (2005). "Phosphoproteomic analysis of the developing mouse brain". Mol. Cell. Proteomics. 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
  • Hart TC, Hart PS, Gorry MC, et al. (2004). "Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects". J. Med. Genet. 40 (12): 900–6. doi:10.1136/jmg.40.12.900. PMC 1735344. PMID 14684688.
  • Hart PS, Michalec MD, Seow WK, et al. (2003). "Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature". Arch. Oral Biol. 48 (8): 589–96. doi:10.1016/S0003-9969(03)00114-6. PMID 12828988.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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.
  • Kida M, Ariga T, Shirakawa T, et al. (2002). "Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary". J. Dent. Res. 81 (11): 738–42. doi:10.1177/154405910208101103. PMID 12407086.
  • Rajpar MH, Harley K, Laing C, et al. (2001). "Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta". Hum. Mol. Genet. 10 (16): 1673–7. doi:10.1093/hmg/10.16.1673. PMID 11487571.
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
  • Dong J, Gu TT, Simmons D, MacDougall M (2001). "Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus". Eur. J. Oral Sci. 108 (5): 353–8. doi:10.1034/j.1600-0722.2000.108005353.x. PMID 11037750.
  • Hu CC, Hart TC, Dupont BR, et al. (2000). "Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development". J. Dent. Res. 79 (4): 912–9. doi:10.1177/00220345000790040501. PMID 10831092.
  • Forsman K, Lind L, Bäckman B, et al. (1995). "Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q". Hum. Mol. Genet. 3 (9): 1621–5. doi:10.1093/hmg/3.9.1621. PMID 7833920.


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