LMBR1 Domain-Containing Protein 1

Alternative Names

LMBRD1
LMBD1
NES-Interacting Protein
NESI

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Length

123,001 bases

No. of Exons

No. of isoforms

Protein Name

Lysosomal cobalamin transport escort protein LMBD1

Molecular Mass

61389 Da

Amino Acid Count

540

Genomic Location

chr6:69,674,010-69,797,010

Gene Map Locus

6q13

Description

This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_018368.4:c.1156C>T	Qatar	NC_000006.12:g.69700797G>A	Pathogenic	Pathogenic		NG_016012.2:g.170820C>T; NM_018368.4:c.1156C>T; NP_060838.3:p.Arg386Ter	1380343985	847318
NM_018368.4:c.562+1G>A	Qatar	NC_000006.12:g.69741788C>T	Likely Pathogenic	Pathogenic		NG_016012.2:g.129829G>A; NM_018368.4:c.562+1G>A; NP_060838.3:p.?	372279393	1471643

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External Links

https://medlineplus.gov/genetics/gene/lmbrd1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=LMBRD1

Contributors

Sayeeda Hana: 19.12.2024

Edit History

Sayeeda Hana: 19.12.2024