Human Gene CHML (ENST00000366553.3) Description and Page Index

Description: Homo sapiens CHM like Rab escort protein (CHML), transcript variant 3, mRNA. (from RefSeq NM_001821)
Gencode Transcript: ENST00000366553.3
Gencode Gene: ENSG00000203668.3
Transcript (Including UTRs)
Position: hg38 chr1:241,628,851-241,640,369 Size: 11,519 Total Exon Count: 2 Strand: -
Coding Region
Position: hg38 chr1:241,633,796-241,635,766 Size: 1,971 Coding Exon Count: 1

Page Index

Sequence and Links

UniProtKB Comments

Protein Structure

Other Names

Methods

Data last updated at UCSC: 2021-06-20 19:51:40

Sequence and Links to Tools and Databases


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Comments and Description Text from UniProtKB


	ID: RAE2_HUMAN DESCRIPTION: RecName: Full=Rab proteins geranylgeranyltransferase component A 2; AltName: Full=Choroideraemia-like protein; AltName: Full=Rab escort protein 2; Short=REP-2; FUNCTION: Binds unprenylated Rab proteins, presents it to the catalytic Rab GGTase dimer, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than REP-1 in supporting prenylation of Rab3 family. SUBUNIT: Monomer. Interacts with Rab and Rab GGTase. MISCELLANEOUS: Substitutes for REP-1 thereby preventing widespread tissue abnormalities in patients with choroideremia who lack REP- 1. SIMILARITY: Belongs to the Rab GDI family.

Protein Domain and Structure Information


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Other Names for This Gene


	UCSC ID: ENST00000366553.3 Representative RNA: NM_001821 Protein: P26374 (aka RAE2_HUMAN)

Methods, Credits, and Use Restrictions


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