Entrez Gene ID | 5066 |
---|---|
Official Gene Symbol | PAM (GeneCards) |
Full name | peptidylglycine alpha-amidating monooxygenase |
Location | 5q21.1 |
Other ids | Vega : OTTHUMG00000128729 MIM : 170270 HGNC : HGNC:8596 Ensembl : ENSG00000145730 |
Other names | PAL, PHM |
Summary | This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] |
Found 4 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
8049 | 5066 | PAM | 5 | 102390138 | 102390138 | Asymptomatic | HiSeq X Ten |
8050 | 5066 | PAM | 5 | 102390169 | 102390169 | Asymptomatic | HiSeq X Ten |
8051 | 5066 | PAM | 5 | 102402990 | 102402990 | Asymptomatic | HiSeq X Ten |
29773 | 5066 | PAM | 5 | 102295584 | 102295584 | Autism Spectrum Disorders | HiSeq X Ten NextSeq500 |