AMELY

Amelogenin, Y isoform is a protein that in humans is encoded by the AMELY gene.[5][6] AMELY is located on the Y chromosome and encodes a form of amelogenin. Amelogenin is an extracellular matrix protein involved in biomineralization during tooth enamel development.

AMELY
Identifiers
AliasesAMELY, AMGL, AMGY, amelogenin, Y-linked, amelogenin Y-linked
External IDsOMIM: 410000 MGI: 88005 HomoloGene: 47996 GeneCards: AMELY
Orthologs
SpeciesHumanMouse
Entrez

266

11704

Ensembl

ENSG00000099721

ENSMUSG00000031354

UniProt

Q99218

P63277

RefSeq (mRNA)

NM_001143
NM_001364814

NM_001081978
NM_009666
NM_001290371

RefSeq (protein)

NP_001134
NP_001351743

NP_001075447
NP_001277300
NP_033796

Location (UCSC)Chr Y: 6.87 – 6.91 MbChr X: 167.96 – 167.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

Mutations in the related AMELX gene on the X chromosome cause X-linked amelogenesis imperfecta.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000099721 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000031354 - 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. Nakahori Y, Takenaka O, Nakagome Y (February 1991). "A human X-Y homologous region encodes "amelogenin"". Genomics. 9 (2): 264–9. doi:10.1016/0888-7543(91)90251-9. PMID 2004775.
  6. "Entrez Gene: amelogenin".
  • Human AMELY genome location and AMELY gene details page in the UCSC Genome Browser.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.