Low Density Lipoprotein Receptor Adaptor Protein 1

Alternative Names

LDLRAP1
LDLR Adaptor Protein 1
ARH Gene
ARH

Length

47,708 bases

No. of Exons

No. of isoforms

Protein Name

Low density lipoprotein receptor adapter protein 1

Molecular Mass

33885 Da

Amino Acid Count

308

Genomic Location

chr1:25,543,580-25,591,287

Gene Map Locus

1p36.11

Description

The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_015627.2:c.406C>T	Lebanon	chr1:25557214	Pathogenic	Likely Pathogenic, Pathogenic, Uncertain Significance	Hypercholesterolemia, Familial, 4	NG_008932.1:g.18630C>T ; NM_015627.2:c.406C>T; NP_056442.2:p.Gln136Ter	121908325	4775
NM_015627.2:c.605C>A	Lebanon	NC_000001.11:g.25563142C>A	Benign, Likely Benign, Likely Pathogenic, Uncertain Significance	Pathogenic	Hypercholesterolemia, Familial, 4	NG_008932.1:g.24558C>A ; NM_015627.2:c.605C>A; NP_056442.2:p.Ser202Tyr	121908326	4776
NM_015627.2:c.89-1G>C	Lebanon; Syria	chr1:25553921	Pathogenic	Pathogenic	Hypercholesterolemia, Familial, 4	NG_008932.1:g.15337G>C; NM_015627.2:c.89-1G>C	755104973	4779

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External Links

https://ghr.nlm.nih.gov/gene/LDLRAP1 https://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAP1

Contributors

Asha Deepthi: 03.02.2021
Pratibha Nair: 24.07.2019

Edit History

Sami Bizzari: 08.09.2022
Asha Deepthi: 03.02.2021
Sayeeda Hana: 10.05.2020
Pratibha Nair: 24.07.2019
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004
Ghazi O. Tadmouri: 23.08.2004
Ghazi O. Tadmouri: 28.02.2004

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