BC008251
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
28,473 Da
NCBI Official Full Name
Homo sapiens abhydrolase domain containing 11, mRNA
NCBI Official Synonym Full Names
abhydrolase domain containing 11
NCBI Protein Information
protein ABHD11
UniProt Protein Name
Protein ABHD11
UniProt Synonym Protein Names
Alpha/beta hydrolase domain-containing protein 11
UniProt Synonym Gene Names
UniProt Entry Name
ABHDB_HUMAN
NCBI Summary for ABHD11
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. [provided by RefSeq, Mar 2016]
UniProt Comments for ABHD11
ABHD11: ABHD11 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Belongs to the AB hydrolase superfamily. 5 isoforms of the human protein are produced by alternative splicing.
Protein type: Hydrolase; EC 3.-.-.-
Chromosomal Location of Human Ortholog: 7q11.23
Molecular Function: hydrolase activity
Research Articles on ABHD11
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Diseases associated with ABHD11 cdna clone
Organs/Tissues associated with ABHD11 cdna clone
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