RETSAT

protein-coding

retinol saturase

Gene summary

Predicted to enable all-trans-retinol 13,14-reductase activity. Predicted to be involved in retinol metabolic process. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_017750.4

Inheritance

—

ClinVar variants

U:122B:15

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr2:85,341,955-85,354,531

External References & Databases

Ensembl (ENSG00000042445)

Transcript & Mutation Effects

hg38 • Region Span ~12.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RETSAT variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 113

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017750.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar		4 clinvar	6
missense			113 clinvar	7 clinvar	1 clinvar	121
nonsense					1 clinvar	1
start loss						0
frameshift				1 clinvar	1 clinvar	2
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	122	8	7	137

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 37 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017750.4	RefSeq	NP_060220.3	11	MANE Select
ENST00000295802.9	Ensembl	ENSP00000295802.4	11	MANE Select
ENST00000409984.2	Ensembl	ENSP00000387196.2	4	Standard
ENST00000429806.5	Ensembl	ENSP00000388202.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Retinol metabolism - Homo sapiens (human)
Vitamin A Deficiency
Retinol Metabolism
Vitamin A and Carotenoid Metabolism
Signaling by GPCR

Biological Process

retinol metabolic process
oxidation-reduction process

Molecular Function

oxidoreductase activity
all-trans-retinol 13,14-reductase activity

Cellular Component

nuclear outer membrane
endoplasmic reticulum membrane
membrane
nuclear membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000295802
Coding exons: 11
Length: 12533
Individuals with no LoFs: 122995
Homozygous LoFs: 29
Heterozygous LoFs: 2724
Defined: 125748
p: 0.0110

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.113	342	348	0.983	0.0000191	3914
Missense (PolyPhen)		73	80.514	0.90668		920
Synonymous	-0.150	147	145	1.02	0.00000796	1279
Loss of Function	1.08	24	30.5	0.788	0.00000191	302

Population LoF Frequency

Population	CAF	p-value	Status
African	0.019	0.019	notable
Latino/Admixed American	0.011	0.011	notable
Ashkenazi Jewish	0.0029	0.0029	notable
East Asian	0.095	0.059	notable
Finnish	0.012	0.012	notable
European (Non-Finnish)	0.0046	0.0045	notable
South Asian	0.0064	0.0055	notable
Other	0.011	0.0093	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Catalyzes the saturation of all-trans-retinol to all- trans-13,14-dihydroretinol. Does not exhibit any activity toward all-trans-retinoic acid, nor 9-cis, 11-cis or 13-cis-retinol isomers. May play a role in the metabolism of vitamin A. Independently of retinol conversion, may regulate liver metabolism upstream of MLXIPL/ChREBP. May play a role in adipocyte differentiation. {ECO:0000250|UniProtKB:Q64FW2}.;

Recessive Scores

pRec: 0.0935

Intolerance Scores

LoFtool: 0.956
RVIS EVS: 0.07
RVIS percentile EVS: 59.16

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.462

Gene Damage Prediction

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