AMELY - amelogenin Y-linked Gene

Also Known as AMGL; AMGY

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 266

About AMELY

Cytogenetic location: Yp11.2 Genomic coordinates (GRCh38): Y:6,865,918-6,911,752 (from NCBI)

This gene has 2 transcripts (splice variants), 7 orthologues and 1 paralogue. Low expression observed in reference dataset.

Summary

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]

AMELY Products (2)

mRNA Protein Name
NM_001143.2 NP_001134.1 amelogenin, Y isoform isoform 1 precursor
NM_001364814.1 NP_001351743.1 amelogenin, Y isoform isoform 2 precursor
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables structural constituent of tooth enamel IDA
IDA: Inferred from direct assay
1734713 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AMELY Protein Structure

Amelogenin

Amelogenin: Amelogenin (17 - 206)

  • 0
  • 100
  • 206 a.a.
Protein Preferred Names Protein Names

amelogenin, Y isoform

  • amelogenin (Y chromosome)

関連疾患

Diseases Alias
Amelogenesis Imperfecta
  • Ai

  • Congenital Enamel Hypoplasia

  • Al - [Amelogenesis Imperfecta]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Mus musculus AMELY MGD MGI:88005
Others AMELY NCBI