OLAH

oleoyl-ACP hydrolase

Basic information

Region (hg38): 10:15032227-15073853

Previous symbols: [ "THEDC1" ]

Links

ENSG00000152463 ∙ NCBI:55301 ∙ ∙ HGNC:25625 ∙ Uniprot:Q9NV23 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OLAH gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OLAH gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			20	2		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	2	0

Variants in OLAH

This is a list of pathogenic ClinVar variants found in the OLAH region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-15047301-G-A		not specified	Uncertain significance (Dec 14, 2021)
10-15049653-C-A		not specified	Uncertain significance (Dec 13, 2023)
10-15049660-T-C		not specified	Uncertain significance (May 30, 2024)
10-15049730-C-G		not specified	Uncertain significance (Aug 02, 2021)
10-15061745-G-C		not specified	Uncertain significance (Aug 12, 2024)
10-15061769-C-T		not specified	Uncertain significance (Apr 20, 2023)
10-15061796-T-C		not specified	Uncertain significance (Mar 01, 2024)
10-15061840-C-G		not specified	Uncertain significance (Jul 19, 2022)
10-15061849-T-C		not specified	Uncertain significance (Oct 27, 2022)
10-15064414-A-G		not specified	Uncertain significance (Jan 29, 2025)
10-15065600-G-A		not specified	Uncertain significance (Jul 27, 2024)
10-15065697-T-A		not specified	Likely benign (Nov 08, 2022)
10-15065738-T-C		not specified	Uncertain significance (Mar 30, 2022)
10-15065749-T-C		not specified	Uncertain significance (May 04, 2022)
10-15071796-T-C		not specified	Uncertain significance (Mar 03, 2025)
10-15071836-C-T		not specified	Uncertain significance (Jun 05, 2023)
10-15071860-T-C		not specified	Uncertain significance (Jun 12, 2023)
10-15071870-C-G		not specified	Uncertain significance (Oct 11, 2024)
10-15073108-G-A		not specified	Uncertain significance (Mar 26, 2024)
10-15073113-G-A		not specified	Likely benign (Sep 17, 2021)
10-15073167-G-A		not specified	Uncertain significance (Feb 11, 2025)
10-15073184-C-G		not specified	Uncertain significance (Feb 05, 2024)
10-15073188-A-C		not specified	Uncertain significance (Jun 03, 2022)
10-15073213-C-T		not specified	Uncertain significance (Mar 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OLAH	protein_coding	protein_coding	ENST00000378217	8	41626

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.57e-10	0.0585	125686	0	47	125733	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.975	193	158	1.22	0.00000786	2092
Missense in Polyphen		73	51.009	1.4311		734
Synonymous	0.130	53	54.2	0.978	0.00000278	585
Loss of Function	-0.160	14	13.4	1.05	6.58e-7	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000271	0.000262
Ashkenazi Jewish	0.00	0.00
East Asian	0.00152	0.00147
Finnish	0.000234	0.000231
European (Non-Finnish)	0.0000732	0.0000703
Middle Eastern	0.00152	0.00147
South Asian	0.0000343	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Contributes to the release of free fatty acids from fatty acid synthase (FASN). Has broad substrate specificity, giving rise to a range of free fatty acids with chain lengths between 10 and 16 carbon atoms (C10 - C16). {ECO:0000269|PubMed:26663084}.
• Pathway: Fatty acid biosynthesis - Homo sapiens (human);Metabolism of lipids;Fatty acyl-CoA biosynthesis;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.0690

Intolerance Scores

• loftool: 0.295
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.46

Haploinsufficiency Scores

• pHI: 0.0958
• hipred: N
• hipred_score: 0.123
• ghis: 0.495

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0487

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Olah
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: lipid biosynthetic process;medium-chain fatty acid biosynthetic process
• Cellular component: cytosol
• Molecular function: oleoyl-[acyl-carrier-protein] hydrolase activity;myristoyl-[acyl-carrier-protein] hydrolase activity;palmitoyl-[acyl-carrier-protein] hydrolase activity;dodecanoyl-[acyl-carrier-protein] hydrolase activity