BORCS8

Chr 19p13.11

BLOC-1 related complex subunit 8

MANE:: ENST00000462790.8

OMIM: 616601 ↗NCBI: 729991 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

BORCS8 · Q96FH0

v62025-08-01

Predicted Aligned Error matrix for BORCS8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.4/ 100

Very high

119 residues

Confidence breakdown

Very high(≥ 90)84%
Confident(70–90)8%
Low(50–70)8%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
0.65
MHC class II deficiency
0.12
Immunodeficiency by defective expression of HLA class 2
0.12
hepatocellular carcinoma
0.04
tooth disorder
0.04
osteosarcoma
0.01
Compulsive behaviors
0.01
Cowden disease
0.01
obesity disorder
0.00
obesity due to melanocortin 4 receptor deficiency
0.00

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

BLOC-1-related complex subunit 8

As part of the BLOC-one-related complex (BORC), it plays a role in the movement and localization of lysosomes at the cell periphery (PubMed:25898167, PubMed:38128568). Associated with the cytosolic face of lysosomes, BORC recruits ARL8B to the lysosomal membrane and couples lysosomes to microtubule plus-end-directed kinesin motors, driving lysosome movement toward the cell periphery