Description
glucan (1,4-alpha-), branching enzyme 1 [Source:HGNC Symbol;Acc:4180]
Gene Synonyms
APBD, GBE, GSD4
Location
Chromosome 3: 81,538,850-81,811,312 reverse strand.
GRCh37:CM000665.1
About this gene
This gene has 6 transcripts (splice variants) and is associated with 11 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000429644.2 | GBE1-001 | 3461 | 702aa | ENSP00000410833.2 | Protein coding | CCDS54612 | Q04446 | NM_000158.3 | GENCODE basic, |
ENST00000489715.1 | GBE1-002 | 2513 | 661aa | ENSP00000419638.1 | Protein coding | E9PGM4 | - | GENCODE basic, | |
ENST00000477426.1 | GBE1-004 | 568 | No protein | - | Processed transcript | - | - | - | |
ENST00000484687.1 | GBE1-006 | 863 | No protein | - | Retained intron | - | - | - | |
ENST00000498468.1 | GBE1-008 | 752 | No protein | - | Retained intron | - | - | - | |
ENST00000486920.1 | GBE1-005 | 576 | No protein | - | Retained intron | - | - | - |