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ATP6V1E1

ATPase H+ transporting V1 subunit E1

HCNC Approved Symbol
ATP6V1E1 (HGNC:857)
Genomic Coordinates
22:17,592,136 - 17,628,822 (22q11.21)
Synonyms
P31, Vma4, ATP6E2, ATP6E, ATP6V1E
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Cutis laxa, autosomal recessive, type IIC
617402AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the ATP6V1E1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results