1. Gene
  2. ABHD10 - abhydrolase domain containing 10, depalmitoylase Gene

ABHD10 - abhydrolase domain containing 10, depalmitoylase Gene

Homo sapiens
Gene ID: 55347 | Gene type: protein coding

About ABHD10

Cytogenetic location: 3q13.2 Genomic coordinates (GRCh38): 3:111,979,026-111,993,368 (from NCBI)

This gene has 5 transcripts (splice variants) and 230 orthologues. Ubiquitous expression in kidney (RPKM 20.6), thyroid (RPKM 19.7) and 25 other tissues.

Summary

This gene encodes a mitochondrially-localized Enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

ABHD10 Products(2)

mRNA Protein Name
NM_001272069.2 NP_001258998.1 palmitoyl-protein thioesterase ABHD10, mitochondrial isoform 2
NM_018394.4 NP_060864.1 palmitoyl-protein thioesterase ABHD10, mitochondrial isoform 1 precursor

ABHD10 Protein Structure

Abhydrolase_6

Abhydrolase_6: Alpha/beta hydrolase family (78 - 272)

  • 0
  • 100
  • 200
  • 306 a.a.
Protein Preferred Names Protein Names

palmitoyl-protein thioesterase ABHD10, mitochondrial

abhydrolase domain-containing protein 10, mitochondrial

Recombinant ABHD10 Proteins

Cat. No. Product Name Accession Purity
HY-P76706 ABHD10 Protein, Human (sf9, His) Q9NUJ1 (T53-N306) ≥95%

Related Diseases

Diseases Alias
Hypoglycemia, Leucine-Induced

Leucine-Sensitive Hypoglycemia Of Infancy

Leucine-Induced Hypoglycemia

LIH

Hypoglycemia Of Infancy, Leucine-Sensitive

Familial Infantile Hypoglycemia Precipitated By Leucine

Hypoglycemia Leucine Induced

Hypoglycemia Leucine-Induced

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease

2p21 Microdeletion Syndrome

HCS

Homozygous 2p16 Deletion Syndrome, Formerly

2p21 Deletion Syndrome

Del(2)(P21)

Monosomy 2p21

Atypical Hypotonia-Cystinuria Syndrome

Atypical Hcs

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ABHD10 VGNC VGNC:56123
Macaca mulatta ABHD10 VGNC VGNC:69534
Mus musculus ABHD10 MGD MGI:2442422
Rattus norvegicus ABHD10 RGD RGD:1308084
Bos taurus ABHD10 VGNC VGNC:25488
Others ABHD10 NCBI