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
Aliases	AMELY, AMGL, AMGY, amelogenin, Y-linked, amelogenin Y-linked
External IDs	OMIM: 410000; MGI: 88005; HomoloGene: 47996; GeneCards: AMELY; OMA:AMELY - orthologs
Gene location (Human) Chr. Y chromosome (human)[1] Band Yp11.2 Start 6,865,918 bp[1] End 6,911,752 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F5|X 78.95 cM Start 167,959,110 bp[2] End 167,970,196 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle gonad sural nerve placenta Ventricular system of neuraxis ventricular zone thyroid gland left lobe of thyroid gland hepatobiliary system pancreas Top expressed in molar embryo mandibular molars nucleus pulposus sexually immature organism temporal muscle ascending aorta aortic valve olfactory epithelium tibiofemoral joint More reference expression data BioGPS n/a
Gene ontology Molecular function structural constituent of tooth enamel Cellular component extracellular matrix extracellular region collagen-containing extracellular matrix Biological process multicellular organism development biomineral tissue development tooth mineralization Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr X: 167.96 – 167.97 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

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