• Gene id: 10994

Gene Summary

• Gene Symbol: ILVBL   Gene   UCSC   Ensembl
• Aliases: 209L8, AHAS, HACL1L, ILV2H
• Gene name: ilvB acetolactate synthase like
• Alternate names: 2-hydroxyacyl-CoA lyase 2, acetolactate synthase-like protein, 2-hydroxyacyl-CoA lyase 1 like, acetolactate synthase homolog, ilvB (bacterial acetolactate synthase)-like, ilvB-like protein,
• Gene location: 19p13.12 (15125785: 15114981)     Exons: 16     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes th
• OMIM: 605770

Protein Summary

• Protein general information: A1L0T0  
  • Name: 2 hydroxyacyl CoA lyase 2 (EC 4.1.2. ) (Acetolactate synthase like protein) (IlvB like protein)
  • Length: 632  
  • Mass: 67868
  • Tissue specificity: Expressed in all tissues tested, with highest expression in heart, pancreas and placenta. {ECO
• Sequence:

  METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKVDKASVRHGGENVAAVLRAHGVRFIFTLVG
  GHISPLLVACEKLGIRVVDTRHEVTAVFAADAMARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAA
  STLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVP
  AKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQVQRCVEILSRAKRPLMVLGSQALLTPTS
  ADKLRAAVETLGVPCFLGGMARGLLGRNHPLHIRENRSAALKKADVIVLAGTVCDFRLSYGRVLSHSSKIIIVNR
  NREEMLLNSDIFWKPQEAVQGDVGSFVLKLVEGLQGQTWAPDWVEELREADRQKEQTFREKAAMPVAQHLNPVQV
  LQLVEETLPDNSILVVDGGDFVGTAAHLVQPRGPLRWLDPGAFGTLGVGAGFALGAKLCRPDAEVWCLFGDGAFG
  YSLIEFDTFVRHKIPVMALVGNDAGWTQISREQVPSLGSNVACGLAYTDYHKAAMGLGARGLLLSRENEDQVVKV
  LHDAQQQCRDGHPVVVNILIGRTDFRDGSIAV

• Structural information:
  • Interpro: IPR029035  IPR029061  IPR012000  IPR012001  IPR000399   IPR011766  
  • Prosite: PS00187
  • STRING: ENSP00000263383
• Other Databases: GeneCards:  ILVBL  Malacards:  ILVBL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003984	acetolactate synthase activity	IBA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0001561	fatty acid alpha-oxidation	IDA	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0030976	thiamine pyrophosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016829	lyase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)