GenTIGS

7-dehydrocholesterol reductase (DHCR7) Associated conditions: 1. Smith-Lemli-Opitz syndrome

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_001163817.2	NP_001157289.1	NC_000011.10	(71434410..71448392, complement)	Reference GRCh38.p14 Primary Assembly	Q9UBM7
2	REVIEWED	NM_001360.3	NP_001351.2	NC_000011.10	(71434410..71448392, complement)	Reference GRCh38.p14 Primary Assembly	Q9UBM7

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 1192 reference articles

Variant Information 7-dehydrocholesterol reductase (DHCR7) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene 7-dehydrocholesterol reductase (DHCR7)

ClinVar variants:Revealing mutagenic patterns

GO Term of 7-dehydrocholesterol reductase (DHCR7)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	25637936 32694168
2	Homo sapiens	IDA	located_in	nuclear outer membrane	Component	9878250
3	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	9878250
4	Homo sapiens	TAS	located_in	endoplasmic reticulum membrane	Component	-
5	Homo sapiens	IBA	involved_in	cholesterol biosynthetic process	Process	21873635
6	Homo sapiens	IMP	involved_in	cholesterol biosynthetic process	Process	9465114
7	Homo sapiens	IBA	enables	sterol delta7 reductase activity	Function	21873635
8	Homo sapiens	HDA	located_in	membrane	Component	19946888
9	Homo sapiens	IBA	involved_in	brassinosteroid biosynthetic process	Process	21873635
10	Homo sapiens	TAS	involved_in	cholesterol biosynthetic process via desmosterol	Process	-
11	Homo sapiens	TAS	involved_in	cholesterol biosynthetic process via lathosterol	Process	-
12	Homo sapiens	EXP	enables	7-dehydrocholesterol reductase activity	Function	9465114
13	Homo sapiens	IBA	enables	7-dehydrocholesterol reductase activity	Function	21873635
14	Homo sapiens	IDA	enables	7-dehydrocholesterol reductase activity	Function	9465114
15	Homo sapiens	ISS	enables	NADP binding	Function	-