cardiolipin synthase 1

Summary
Gene Symbol
  • CRLS1
Aliases
  • CLS1
  • GCD10
  • GCD10 homolog (S. cerevisiae)
  • dJ967N21.6
Organism
Homo sapiens (human)
NCBI Gene
54675
HGNC
16148
KEGG Gene ID
hsa:54675
PubChem
54675
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Mitochondrion inner membrane
  • Phospholipid biosynthesis
  • Primary mitochondrial disease
  • Reference proteome
  • Transferase
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9UJA2
  • Protein GCD10 homolog
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
synthase
Functional Category
  • L: Replication, recombination and repair
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • P: Inorganic ion transport and metabolism
KEGG BRITE Database
Orthology
K08744
Name
cardiolipin synthase (CMP-forming) [EC:2.7.8.41]
References
Disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 34 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000407 Sensorineural hearing impairment
HP:0000639 Nystagmus
HP:0000710 Hyperorality
HP:0000863 Central diabetes insipidus
HP:0000873 Diabetes insipidus
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001263 Global developmental delay
HP:0001332 Dystonia
Displaying 1 entry
Disease ID Disease Name
OMIM:620167
  • combined oxidative phosphorylation deficiency 57
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002801
Gene Name
cardiolipin synthase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024