GenTIGS

Retinol dehydrogenase 12 (RDH12) Associated conditions: 1. Retinitis pigmentosa 2. Leber congenital amaurosis 3. Stargardt disease

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_152443.3	NP_689656.2	NC_000014.9	(67701885..67734450)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 168 reference articles

Variant Information Retinol dehydrogenase 12 (RDH12) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Retinol dehydrogenase 12 (RDH12)

ClinVar variants:Revealing mutagenic patterns

GO Term of Retinol dehydrogenase 12 (RDH12)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	TAS	involved_in	retinoid metabolic process	Process	-
2	Homo sapiens	IEA	located_in	photoreceptor inner segment	Component	-
3	Homo sapiens	ISS	located_in	photoreceptor inner segment	Component	-
4	Homo sapiens	IDA	enables	all-trans-retinol dehydrogenase (NAD+) activity	Function	12226107
5	Homo sapiens	IEA	enables	all-trans-retinol dehydrogenase (NAD+) activity	Function	-
6	Homo sapiens	IPI	enables	protein binding	Function	20006610 25416956 25910212 32296183
7	Homo sapiens	IEA	located_in	endoplasmic reticulum membrane	Component	-
8	Homo sapiens	IEA	involved_in	lipid metabolic process	Process	-
9	Homo sapiens	IEA	involved_in	visual perception	Process	-
10	Homo sapiens	IMP	involved_in	visual perception	Process	12226107
11	Homo sapiens	TAS	involved_in	visual perception	Process	12226107
12	Homo sapiens	IEA	enables	oxidoreductase activity	Function	-
13	Homo sapiens	IDA	involved_in	retinol metabolic process	Process	12226107
14	Homo sapiens	IEA	involved_in	retinol metabolic process	Process	-
15	Homo sapiens	TAS	involved_in	photoreceptor cell maintenance	Process	12226107
16	Homo sapiens	IDA	enables	all-trans-retinol dehydrogenase (NADP+) activity	Function	12226107
17	Homo sapiens	IEA	enables	all-trans-retinol dehydrogenase (NADP+) activity	Function	-
18	Homo sapiens	TAS	enables	all-trans-retinol dehydrogenase (NADP+) activity	Function	-
19	Homo sapiens	TAS	located_in	photoreceptor inner segment membrane	Component	-
20	Homo sapiens	IEA	enables	11-cis-retinol dehydrogenase (NADP+) activity	Function	-
21	Homo sapiens	IDA	involved_in	cellular detoxification of aldehyde	Process	19686838
22	Homo sapiens	IEA	involved_in	cellular detoxification of aldehyde	Process	-