Human Endogenous Retrovirus-H Long Terminal Repeat-Associating 1

Alternative Names

HHLA1
HERV-H LTR-Associating 1

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Length

49,678 bases

No. of Exons

No. of isoforms

Protein Name

HERV-H LTR-associating protein 1

Molecular Mass

58297 Da

Amino Acid Count

531

Genomic Location

chr8:132,061,479-132,111,156

Gene Map Locus

8q24.22

Description

Human endogenous retroviruses (HERVs) are repetitive elements, derived from ancient germline retroviral infections, that have increased in copy number by further rounds of infection, retrotransposition, and/or duplication. HHLA1 (HERV-H LTR-Associating 1) is a Protein Coding gene. Diseases associated with HHLA1 include Granular Cell Carcinoma and Testis Seminoma [From OMIM; GeneCards]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001145095.1:c.677-7C>T	United Arab Emirates	NC_000008.11:g.132079973G>A		Likely Benign		NM_001145095.1:c.677-7C>T; NP_001138567.1:p.?	116232399

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=hhla1

Contributors

Sami Bizzari: 21.02.2022

Edit History

Sami Bizzari: 21.02.2022