full name
aspartate beta-hydroxylase

synonyms
AAH, BAH, CASQ2BP1, HAAH, JCTN, junctin, ASPH, ENSG00000198363

HGNC
HGNC:757

Entrez Gene
Gene:444

ENSEMBL
ENSG00000198363

location
chr: 8
start: 62413115
stop: 62627199
strand: -

OMIM
OMIM:600582: ASPH (Autosomal recessive inheritance)
OMIM:601552: Traboulsi syndrome

transcripts
NM_004318.3
NM_001164750.1
NM_001164755.1
NM_001164754.1
NM_032466.3
NM_001164753.1
NM_001164752.1
NM_001164751.1
NM_032468.4
NM_032467.3
NM_020164.4
NM_001164756.1

pathways
Cardiac conduction [NCBI:1339115] [REACTOME:R-HSA-5576891] [PUBMED:19808464] [PUBMED:26140724] [PUBMED:21357845]
Ion channel transport [NCBI:1269950] [REACTOME:R-HSA-983712] [PUBMED:15071553]
Ion homeostasis [NCBI:1339121] [REACTOME:R-HSA-5578775] [PUBMED:26140724] [PUBMED:17017901]
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Stimuli-sensing channels [NCBI:1269953] [REACTOME:R-HSA-2672351] [PUBMED:15728426] [PUBMED:16460286] [PUBMED:12907679] [PUBMED:18391176] [PUBMED:19278523] [PUBMED:11904445] [PUBMED:22934072] [PUBMED:20807551] [PUBMED:19783045] [PUBMED:16219661] [PUBMED:21932071] [PUBMED:22277752]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]