Tbio AMMECR1 AMME syndrome candidate gene 1 protein

Protein Summary

Description

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Uniprot Accession IDs

• Q9Y4X0
• Q5JYV9
• Q6P9D8
• Q8WX22
• Q9UIQ8

Gene Name

• AMMECR1

Ensembl ID

• ENST00000262844
• ENSP00000262844
• ENSG00000101935
• ENST00000372057
• ENSP00000361127
• ENST00000372059
• ENSP00000361129

Symbol

• MFHIEN
• AMMERC1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
co-expressed gene	1
gene perturbation	0.91
microRNA	0.86
transcription factor perturbation	0.8
kinase perturbation	0.6

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 11.59   (req: < 5)

Gene RIFs: 5   (req: <= 3)

Antibodies: 115   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 11.59   (req: >= 5)

Gene RIFs: 5   (req: > 3)

Antibodies: 115   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Term: 0

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0