ABHD11

ABHD11
Identifiers
Aliases	ABHD11, WBSCR21, PP1226, abhydrolase domain containing 11
External IDs	MGI: 1916008; HomoloGene: 5961; GeneCards: ABHD11; OMA:ABHD11 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	73,738,852 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	135,041,029 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; right uterine tube; ; olfactory zone of nasal mucosa; ; body of pancreas; ; rectum; ; pancreatic ductal cell; ; minor salivary glands; ; epithelium of bronchus;
	Top expressed in
	interventricular septum; ; nasal septum; ; medial head of gastrocnemius muscle; ; soleus muscle; ; quadriceps femoris muscle; ; lacrimal gland; ; tibialis anterior muscle; ; sternocleidomastoid muscle; ; vastus lateralis muscle; ; proximal tubule;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	hydrolase activity; molecular function;
Cellular component	cellular component; mitochondrion;
Biological process	biological process;
	Sources:Amigo / QuickGO
Orthologs
	83451
	68758
	ENSG00000106077
	ENSMUSG00000040532
	Q8NFV4
	Q8K4F5
NM_001145363; NM_001145364; NM_001301058; NM_148912; NM_148913;
	NM_148914; NM_148916; NM_001321383
	NM_001190437; NM_145215
NP_001138836; NP_001287987; NP_001308311; NP_001308312; NP_683710;
	NP_683711
	NP_001177366; NP_660250
	Wikidata
View/Edit Human	View/Edit Mouse

Abhydrolase domain-containing protein 11 also known as Williams-Beuren syndrome chromosomal region 21 protein (WBSCR21) is an enzyme that in humans is encoded by the ABHD11 gene.^[5]^[6]

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.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000106077 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040532 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet. 110 (5): 429–38. doi:10.1007/s00439-002-0710-x. PMID 12073013. S2CID 29964959.
^ ^a ^b "Entrez Gene: ABHD11 abhydrolase domain containing 11".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000106077 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040532 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12073013-5] Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet. 110 (5): 429–38. doi:10.1007/s00439-002-0710-x. PMID 12073013. S2CID 29964959.

[entrez-6] "Entrez Gene: ABHD11 abhydrolase domain containing 11".

[1]

[2]

[3]

[4]

[5]

[6]