full name
gephyrin

synonyms
GEPH, GPH, GPHRYN, HKPX1, GPHN, ENSG00000171723

HGNC
HGNC:15465

Entrez Gene
Gene:10243

ENSEMBL
ENSG00000171723

location
chr: 14
start: 66974125
stop: 67648525
strand: +

OMIM
OMIM:603930: GPHN
OMIM:615501: Molybdenum cofactor deficiency C

transcripts
NM_020806.4
NM_001024218.1

pathways
Folate biosynthesis [NCBI:83018] [KEGG:hsa00790] [PUBMED:16632608] [PUBMED:19675644] [PUBMED:12571226] [PUBMED:18092812]
GABAergic synapse [NCBI:377263] [KEGG:hsa04727] [PUBMED:21555068] [PUBMED:20655485] [PUBMED:16932937] [PUBMED:17499108] [PUBMED:12086709] [PUBMED:20655481] [PUBMED:21376567] [PUBMED:19374920] [PUBMED:17499109] [PUBMED:10780899] [PUBMED:16787421] [PUBMED:15210304] [PUBMED:18382465] [PUBMED:12888801] [PUBMED:9364667]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors [NCBI:1270145] [REACTOME:R-HSA-196849]
Molybdenum cofactor biosynthesis [NCBI:1270157] [REACTOME:R-HSA-947581] [PUBMED:19675644] [PUBMED:16261263]
molybdenum cofactor biosynthesis [NCBI:545283] [BIOCYC:HUMAN_PWY-6823]