ABHD11

GENE INFORMATION

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Gene name

ABHD11 (HGNC Symbol)

Synonyms

PP1226, WBSCR21

Description

Abhydrolase domain containing 11 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Chromosome

7

Cytoband

q11.23

Chromosome location (bp)

73736094 - 73738867

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000106077 (version 78.38)

Entrez gene

83451

UniProt

Q8NFV4 (UniProt - Evidence at transcript level)

neXtProt

NX_Q8NFV4

Antibodypedia

ABHD11 antibodies
 

PROTEIN VIEW

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ABHD11-001
 
ABHD11-003
 
ABHD11-007
 
ABHD11-009
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABHD11-001 ENSP00000222800
ENST00000222800
Q8NFV4
Show all »
Show » Show » 315 34.7 No 0
ABHD11-003 ENSP00000416970
ENST00000437775
Q8NFV4
Show all »
Show » Show » 308 33.9 No 0
ABHD11-007 ENSP00000378579
ENST00000395147
Q8NFV4
Show all »
Show » Show » 258 28.5 No 0
ABHD11-009 ENSP00000397666
ENST00000458339
C9J7Q4
Show all »
Show » Show » 159 17 No 0